SNP Links for Protein (Select 1034610847) - SNP

Links from Protein

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Select item 14894713211.

rs1489471321 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:190525371 (GRCh38)
2:191390097 (GRCh37)
Canonical SPDI:: NC_000002.12:190525370:C:G
Gene:: NEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190525371C>G, NC_000002.11:g.191390097C>G, XM_005246212.4:c.-103G>C, XM_005246212.3:c.-103G>C, XM_005246212.2:c.-103G>C, XM_005246212.1:c.-103G>C, XM_011510459.4:c.-103G>C, XM_011510459.3:c.-103G>C, XM_011510459.2:c.-103G>C, XM_011510459.1:c.-103G>C, XM_011510458.4:c.105G>C, XM_011510458.3:c.105G>C, XM_011510458.2:c.105G>C, XM_011510458.1:c.105G>C, NM_001142645.2:c.105G>C, NM_001142645.1:c.105G>C, NR_136298.2:n.172G>C, NR_136298.1:n.192G>C, XM_017003100.2:c.135G>C, XM_017003100.1:c.135G>C, XM_017003098.2:c.135G>C, XM_017003098.1:c.135G>C, XR_007068185.1:n.172G>C, XM_047441958.1:c.-103G>C, XM_047441961.1:c.-158G>C, XM_047441941.1:c.105G>C, XM_017003099.1:c.135G>C, XM_047441946.1:c.105G>C, XP_011508760.1:p.Arg35Ser, NP_001136117.1:p.Arg35Ser, XP_016858589.1:p.Arg45Ser, XP_016858587.1:p.Arg45Ser, XP_047297897.1:p.Arg35Ser, XP_016858588.1:p.Arg45Ser, XP_047297902.1:p.Arg35Ser

Select item 14863333412.

rs1486333341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:190510373 (GRCh38)
2:191375099 (GRCh37)
Canonical SPDI:: NC_000002.12:190510372:T:C,NC_000002.12:190510372:T:G
Gene:: NEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
G=0.002183/4 (Korea1K)
HGVS:: NC_000002.12:g.190510373T>C, NC_000002.12:g.190510373T>G, NC_000002.11:g.191375099T>C, NC_000002.11:g.191375099T>G, XM_005246212.4:c.911A>G, XM_005246212.4:c.911A>C, XM_005246212.3:c.911A>G, XM_005246212.3:c.911A>C, XM_005246212.2:c.911A>G, XM_005246212.2:c.911A>C, XM_005246212.1:c.911A>G, XM_005246212.1:c.911A>C, XM_011510459.4:c.911A>G, XM_011510459.4:c.911A>C, XM_011510459.3:c.911A>G, XM_011510459.3:c.911A>C, XM_011510459.2:c.911A>G, XM_011510459.2:c.911A>C, XM_011510459.1:c.911A>G, XM_011510459.1:c.911A>C, XM_011510458.4:c.1118A>G, XM_011510458.4:c.1118A>C, XM_011510458.3:c.1118A>G, XM_011510458.3:c.1118A>C, XM_011510458.2:c.1118A>G, XM_011510458.2:c.1118A>C, XM_011510458.1:c.1118A>G, XM_011510458.1:c.1118A>C, NM_001142645.2:c.1118A>G, NM_001142645.2:c.1118A>C, NM_001142645.1:c.1118A>G, NM_001142645.1:c.1118A>C, NR_136298.2:n.1139A>G, NR_136298.2:n.1139A>C, NR_136298.1:n.1159A>G, NR_136298.1:n.1159A>C, XM_017003100.2:c.1148A>G, XM_017003100.2:c.1148A>C, XM_017003100.1:c.1148A>G, XM_017003100.1:c.1148A>C, XM_017003098.2:c.1148A>G, XM_017003098.2:c.1148A>C, XM_017003098.1:c.1148A>G, XM_017003098.1:c.1148A>C, XR_007068185.1:n.1185A>G, XR_007068185.1:n.1185A>C, XM_047441958.1:c.911A>G, XM_047441958.1:c.911A>C, XM_047441961.1:c.695A>G, XM_047441961.1:c.695A>C, XM_047441941.1:c.1118A>G, XM_047441941.1:c.1118A>C, XM_017003099.1:c.1148A>G, XM_017003099.1:c.1148A>C, XM_047441946.1:c.1118A>G, XM_047441946.1:c.1118A>C, XP_005246269.1:p.His304Arg, XP_005246269.1:p.His304Pro, XP_011508761.1:p.His304Arg, XP_011508761.1:p.His304Pro, XP_011508760.1:p.His373Arg, XP_011508760.1:p.His373Pro, NP_001136117.1:p.His373Arg, NP_001136117.1:p.His373Pro, XP_016858589.1:p.His383Arg, XP_016858589.1:p.His383Pro, XP_016858587.1:p.His383Arg, XP_016858587.1:p.His383Pro, XP_047297914.1:p.His304Arg, XP_047297914.1:p.His304Pro, XP_047297917.1:p.His232Arg, XP_047297917.1:p.His232Pro, XP_047297897.1:p.His373Arg, XP_047297897.1:p.His373Pro, XP_016858588.1:p.His383Arg, XP_016858588.1:p.His383Pro, XP_047297902.1:p.His373Arg, XP_047297902.1:p.His373Pro

Select item 14861943753.

rs1486194375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:190516307 (GRCh38)
2:191381033 (GRCh37)
Canonical SPDI:: NC_000002.12:190516306:C:G,NC_000002.12:190516306:C:T
Gene:: NEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190516307C>G, NC_000002.12:g.190516307C>T, NC_000002.11:g.191381033C>G, NC_000002.11:g.191381033C>T, XM_005246212.4:c.483G>C, XM_005246212.4:c.483G>A, XM_005246212.3:c.483G>C, XM_005246212.3:c.483G>A, XM_005246212.2:c.483G>C, XM_005246212.2:c.483G>A, XM_005246212.1:c.483G>C, XM_005246212.1:c.483G>A, XM_011510459.4:c.483G>C, XM_011510459.4:c.483G>A, XM_011510459.3:c.483G>C, XM_011510459.3:c.483G>A, XM_011510459.2:c.483G>C, XM_011510459.2:c.483G>A, XM_011510459.1:c.483G>C, XM_011510459.1:c.483G>A, XM_011510458.4:c.690G>C, XM_011510458.4:c.690G>A, XM_011510458.3:c.690G>C, XM_011510458.3:c.690G>A, XM_011510458.2:c.690G>C, XM_011510458.2:c.690G>A, XM_011510458.1:c.690G>C, XM_011510458.1:c.690G>A, NM_001142645.2:c.690G>C, NM_001142645.2:c.690G>A, NM_001142645.1:c.690G>C, NM_001142645.1:c.690G>A, NR_136298.2:n.711G>C, NR_136298.2:n.711G>A, NR_136298.1:n.731G>C, NR_136298.1:n.731G>A, XM_017003100.2:c.720G>C, XM_017003100.2:c.720G>A, XM_017003100.1:c.720G>C, XM_017003100.1:c.720G>A, XM_017003098.2:c.720G>C, XM_017003098.2:c.720G>A, XM_017003098.1:c.720G>C, XM_017003098.1:c.720G>A, XR_007068185.1:n.757G>C, XR_007068185.1:n.757G>A, XM_047441958.1:c.483G>C, XM_047441958.1:c.483G>A, XM_047441961.1:c.267G>C, XM_047441961.1:c.267G>A, XM_047441941.1:c.690G>C, XM_047441941.1:c.690G>A, XM_017003099.1:c.720G>C, XM_017003099.1:c.720G>A, XM_047441946.1:c.690G>C, XM_047441946.1:c.690G>A

Select item 14861514874.

rs1486151487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190607024 (GRCh38)
2:191471750 (GRCh37)
Canonical SPDI:: NC_000002.12:190607023:T:C
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.190607024T>C, NC_000002.11:g.191471750T>C, XM_017003100.2:c.59A>G, XM_017003100.1:c.59A>G, XM_017003098.2:c.59A>G, XM_017003098.1:c.59A>G, XM_017003099.1:c.59A>G, XP_016858589.1:p.Tyr20Cys, XP_016858587.1:p.Tyr20Cys, XP_016858588.1:p.Tyr20Cys

Select item 14854498215.

rs1485449821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190510435 (GRCh38)
2:191375161 (GRCh37)
Canonical SPDI:: NC_000002.12:190510434:C:T
Gene:: NEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190510435C>T, NC_000002.11:g.191375161C>T, XM_005246212.4:c.849G>A, XM_005246212.3:c.849G>A, XM_005246212.2:c.849G>A, XM_005246212.1:c.849G>A, XM_011510459.4:c.849G>A, XM_011510459.3:c.849G>A, XM_011510459.2:c.849G>A, XM_011510459.1:c.849G>A, XM_011510458.4:c.1056G>A, XM_011510458.3:c.1056G>A, XM_011510458.2:c.1056G>A, XM_011510458.1:c.1056G>A, NM_001142645.2:c.1056G>A, NM_001142645.1:c.1056G>A, NR_136298.2:n.1077G>A, NR_136298.1:n.1097G>A, XM_017003100.2:c.1086G>A, XM_017003100.1:c.1086G>A, XM_017003098.2:c.1086G>A, XM_017003098.1:c.1086G>A, XR_007068185.1:n.1123G>A, XM_047441958.1:c.849G>A, XM_047441961.1:c.633G>A, XM_047441941.1:c.1056G>A, XM_017003099.1:c.1086G>A, XM_047441946.1:c.1056G>A

Select item 14850347316.

rs1485034731 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:190519056 (GRCh38)
2:191383782 (GRCh37)
Canonical SPDI:: NC_000002.12:190519055:G:C
Gene:: NEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.190519056G>C, NC_000002.11:g.191383782G>C, XM_005246212.4:c.134C>G, XM_005246212.3:c.134C>G, XM_005246212.2:c.134C>G, XM_005246212.1:c.134C>G, XM_011510459.4:c.134C>G, XM_011510459.3:c.134C>G, XM_011510459.2:c.134C>G, XM_011510459.1:c.134C>G, XM_011510458.4:c.341C>G, XM_011510458.3:c.341C>G, XM_011510458.2:c.341C>G, XM_011510458.1:c.341C>G, NM_001142645.2:c.341C>G, NM_001142645.1:c.341C>G, NR_136298.2:n.408C>G, NR_136298.1:n.428C>G, XM_017003100.2:c.371C>G, XM_017003100.1:c.371C>G, XM_017003098.2:c.371C>G, XM_017003098.1:c.371C>G, XR_007068185.1:n.408C>G, XM_047441958.1:c.134C>G, XM_047441941.1:c.341C>G, XM_017003099.1:c.371C>G, XM_047441946.1:c.341C>G, XP_005246269.1:p.Ser45Cys, XP_011508761.1:p.Ser45Cys, XP_011508760.1:p.Ser114Cys, NP_001136117.1:p.Ser114Cys, XP_016858589.1:p.Ser124Cys, XP_016858587.1:p.Ser124Cys, XP_047297914.1:p.Ser45Cys, XP_047297897.1:p.Ser114Cys, XP_016858588.1:p.Ser124Cys, XP_047297902.1:p.Ser114Cys

Select item 14835452967.

rs1483545296 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:190519170 (GRCh38)
2:191383896 (GRCh37)
Canonical SPDI:: NC_000002.12:190519169:C:G
Gene:: NEMP2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190519170C>G, NC_000002.11:g.191383896C>G, XM_005246212.4:c.20G>C, XM_005246212.3:c.20G>C, XM_005246212.2:c.20G>C, XM_005246212.1:c.20G>C, XM_011510459.4:c.20G>C, XM_011510459.3:c.20G>C, XM_011510459.2:c.20G>C, XM_011510459.1:c.20G>C, XM_011510458.4:c.227G>C, XM_011510458.3:c.227G>C, XM_011510458.2:c.227G>C, XM_011510458.1:c.227G>C, NM_001142645.2:c.227G>C, NM_001142645.1:c.227G>C, NR_136298.2:n.294G>C, NR_136298.1:n.314G>C, XM_017003100.2:c.257G>C, XM_017003100.1:c.257G>C, XM_017003098.2:c.257G>C, XM_017003098.1:c.257G>C, XR_007068185.1:n.294G>C, XM_047441958.1:c.20G>C, XM_047441941.1:c.227G>C, XM_017003099.1:c.257G>C, XM_047441946.1:c.227G>C, XP_005246269.1:p.Ser7Thr, XP_011508761.1:p.Ser7Thr, XP_011508760.1:p.Ser76Thr, NP_001136117.1:p.Ser76Thr, XP_016858589.1:p.Ser86Thr, XP_016858587.1:p.Ser86Thr, XP_047297914.1:p.Ser7Thr, XP_047297897.1:p.Ser76Thr, XP_016858588.1:p.Ser86Thr, XP_047297902.1:p.Ser76Thr

Select item 14790947708.

rs1479094770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190525269 (GRCh38)
2:191389995 (GRCh37)
Canonical SPDI:: NC_000002.12:190525268:A:G
Gene:: NEMP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190525269A>G, NC_000002.11:g.191389995A>G, XM_005246212.4:c.-1T>C, XM_005246212.3:c.-1T>C, XM_005246212.2:c.-1T>C, XM_005246212.1:c.-1T>C, XM_011510459.4:c.-1T>C, XM_011510459.3:c.-1T>C, XM_011510459.2:c.-1T>C, XM_011510459.1:c.-1T>C, XM_011510458.4:c.207T>C, XM_011510458.3:c.207T>C, XM_011510458.2:c.207T>C, XM_011510458.1:c.207T>C, NM_001142645.2:c.207T>C, NM_001142645.1:c.207T>C, NR_136298.2:n.274T>C, NR_136298.1:n.294T>C, XM_017003100.2:c.237T>C, XM_017003100.1:c.237T>C, XM_017003098.2:c.237T>C, XM_017003098.1:c.237T>C, XR_007068185.1:n.274T>C, XM_047441958.1:c.-1T>C, XM_047441961.1:c.-56T>C, XM_047441941.1:c.207T>C, XM_017003099.1:c.237T>C, XM_047441946.1:c.207T>C

Select item 14776406859.

rs1477640685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190606982 (GRCh38)
2:191471708 (GRCh37)
Canonical SPDI:: NC_000002.12:190606981:A:G
Gene:: NEMP2 (Varview), NEMP2-DT (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.190606982A>G, NC_000002.11:g.191471708A>G, XM_017003100.2:c.101T>C, XM_017003100.1:c.101T>C, XM_017003098.2:c.101T>C, XM_017003098.1:c.101T>C, XM_017003099.1:c.101T>C, XP_016858589.1:p.Val34Ala, XP_016858587.1:p.Val34Ala, XP_016858588.1:p.Val34Ala

Select item 147745750610.

rs1477457506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:190518806 (GRCh38)
2:191383532 (GRCh37)
Canonical SPDI:: NC_000002.12:190518805:T:A,NC_000002.12:190518805:T:C
Gene:: NEMP2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190518806T>A, NC_000002.12:g.190518806T>C, NC_000002.11:g.191383532T>A, NC_000002.11:g.191383532T>C, XM_005246212.4:c.241A>T, XM_005246212.4:c.241A>G, XM_005246212.3:c.241A>T, XM_005246212.3:c.241A>G, XM_005246212.2:c.241A>T, XM_005246212.2:c.241A>G, XM_005246212.1:c.241A>T, XM_005246212.1:c.241A>G, XM_011510459.4:c.241A>T, XM_011510459.4:c.241A>G, XM_011510459.3:c.241A>T, XM_011510459.3:c.241A>G, XM_011510459.2:c.241A>T, XM_011510459.2:c.241A>G, XM_011510459.1:c.241A>T, XM_011510459.1:c.241A>G, XM_011510458.4:c.448A>T, XM_011510458.4:c.448A>G, XM_011510458.3:c.448A>T, XM_011510458.3:c.448A>G, XM_011510458.2:c.448A>T, XM_011510458.2:c.448A>G, XM_011510458.1:c.448A>T, XM_011510458.1:c.448A>G, NM_001142645.2:c.448A>T, NM_001142645.2:c.448A>G, NM_001142645.1:c.448A>T, NM_001142645.1:c.448A>G, NR_136298.2:n.515A>T, NR_136298.2:n.515A>G, NR_136298.1:n.535A>T, NR_136298.1:n.535A>G, XM_017003100.2:c.478A>T, XM_017003100.2:c.478A>G, XM_017003100.1:c.478A>T, XM_017003100.1:c.478A>G, XM_017003098.2:c.478A>T, XM_017003098.2:c.478A>G, XM_017003098.1:c.478A>T, XM_017003098.1:c.478A>G, XR_007068185.1:n.515A>T, XR_007068185.1:n.515A>G, XM_047441958.1:c.241A>T, XM_047441958.1:c.241A>G, XM_047441961.1:c.25A>T, XM_047441961.1:c.25A>G, XM_047441941.1:c.448A>T, XM_047441941.1:c.448A>G, XM_017003099.1:c.478A>T, XM_017003099.1:c.478A>G, XM_047441946.1:c.448A>T, XM_047441946.1:c.448A>G, XP_005246269.1:p.Met81Leu, XP_005246269.1:p.Met81Val, XP_011508761.1:p.Met81Leu, XP_011508761.1:p.Met81Val, XP_011508760.1:p.Met150Leu, XP_011508760.1:p.Met150Val, NP_001136117.1:p.Met150Leu, NP_001136117.1:p.Met150Val, XP_016858589.1:p.Met160Leu, XP_016858589.1:p.Met160Val, XP_016858587.1:p.Met160Leu, XP_016858587.1:p.Met160Val, XP_047297914.1:p.Met81Leu, XP_047297914.1:p.Met81Val, XP_047297917.1:p.Met9Leu, XP_047297917.1:p.Met9Val, XP_047297897.1:p.Met150Leu, XP_047297897.1:p.Met150Val, XP_016858588.1:p.Met160Leu, XP_016858588.1:p.Met160Val, XP_047297902.1:p.Met150Leu, XP_047297902.1:p.Met150Val

Select item 147662597011.

rs1476625970 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190519043 (GRCh38)
2:191383769 (GRCh37)
Canonical SPDI:: NC_000002.12:190519042:G:A
Gene:: NEMP2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.190519043G>A, NC_000002.11:g.191383769G>A, XM_005246212.4:c.147C>T, XM_005246212.3:c.147C>T, XM_005246212.2:c.147C>T, XM_005246212.1:c.147C>T, XM_011510459.4:c.147C>T, XM_011510459.3:c.147C>T, XM_011510459.2:c.147C>T, XM_011510459.1:c.147C>T, XM_011510458.4:c.354C>T, XM_011510458.3:c.354C>T, XM_011510458.2:c.354C>T, XM_011510458.1:c.354C>T, NM_001142645.2:c.354C>T, NM_001142645.1:c.354C>T, NR_136298.2:n.421C>T, NR_136298.1:n.441C>T, XM_017003100.2:c.384C>T, XM_017003100.1:c.384C>T, XM_017003098.2:c.384C>T, XM_017003098.1:c.384C>T, XR_007068185.1:n.421C>T, XM_047441958.1:c.147C>T, XM_047441941.1:c.354C>T, XM_017003099.1:c.384C>T, XM_047441946.1:c.354C>T

Select item 147659302012.

rs1476593020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190514569 (GRCh38)
2:191379295 (GRCh37)
Canonical SPDI:: NC_000002.12:190514568:G:A
Gene:: NEMP2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190514569G>A, NC_000002.11:g.191379295G>A, XM_005246212.4:c.630C>T, XM_005246212.3:c.630C>T, XM_005246212.2:c.630C>T, XM_005246212.1:c.630C>T, XM_011510459.4:c.630C>T, XM_011510459.3:c.630C>T, XM_011510459.2:c.630C>T, XM_011510459.1:c.630C>T, XM_011510458.4:c.837C>T, XM_011510458.3:c.837C>T, XM_011510458.2:c.837C>T, XM_011510458.1:c.837C>T, NM_001142645.2:c.837C>T, NM_001142645.1:c.837C>T, NR_136298.2:n.858C>T, NR_136298.1:n.878C>T, XM_017003100.2:c.867C>T, XM_017003100.1:c.867C>T, XM_017003098.2:c.867C>T, XM_017003098.1:c.867C>T, XR_007068185.1:n.904C>T, XM_047441958.1:c.630C>T, XM_047441961.1:c.414C>T, XM_047441941.1:c.837C>T, XM_017003099.1:c.867C>T, XM_047441946.1:c.837C>T

Select item 147395204413.

rs1473952044 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCTC>- [Show Flanks]
Chromosome:: 2:190510433 (GRCh38)
2:191375159 (GRCh37)
Canonical SPDI:: NC_000002.12:190510431:CTCCTC:C
Gene:: NEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0002/1 (ALFA)
-=0.0002/1 (Estonian)
HGVS:: NC_000002.12:g.190510433_190510437del, NC_000002.11:g.191375159_191375163del, XM_005246212.4:c.848_852del, XM_005246212.3:c.848_852del, XM_005246212.2:c.848_852del, XM_005246212.1:c.848_852del, XM_011510459.4:c.848_852del, XM_011510459.3:c.848_852del, XM_011510459.2:c.848_852del, XM_011510459.1:c.848_852del, XM_011510458.4:c.1055_1059del, XM_011510458.3:c.1055_1059del, XM_011510458.2:c.1055_1059del, XM_011510458.1:c.1055_1059del, NM_001142645.2:c.1055_1059del, NM_001142645.1:c.1055_1059del, NR_136298.2:n.1076_1080del, NR_136298.1:n.1096_1100del, XM_017003100.2:c.1085_1089del, XM_017003100.1:c.1085_1089del, XM_017003098.2:c.1085_1089del, XM_017003098.1:c.1085_1089del, XR_007068185.1:n.1122_1126del, XM_047441958.1:c.848_852del, XM_047441961.1:c.632_636del, XM_047441941.1:c.1055_1059del, XM_017003099.1:c.1085_1089del, XM_047441946.1:c.1055_1059del, XP_005246269.1:p.Glu283fs, XP_011508761.1:p.Glu283fs, XP_011508760.1:p.Glu352fs, NP_001136117.1:p.Glu352fs, XP_016858589.1:p.Glu362fs, XP_016858587.1:p.Glu362fs, XP_047297914.1:p.Glu283fs, XP_047297917.1:p.Glu211fs, XP_047297897.1:p.Glu352fs, XP_016858588.1:p.Glu362fs, XP_047297902.1:p.Glu352fs

Select item 146864641214.

rs1468646412 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:190519159 (GRCh38)
2:191383885 (GRCh37)
Canonical SPDI:: NC_000002.12:190519158:A:C
Gene:: NEMP2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190519159A>C, NC_000002.11:g.191383885A>C, XM_005246212.4:c.31T>G, XM_005246212.3:c.31T>G, XM_005246212.2:c.31T>G, XM_005246212.1:c.31T>G, XM_011510459.4:c.31T>G, XM_011510459.3:c.31T>G, XM_011510459.2:c.31T>G, XM_011510459.1:c.31T>G, XM_011510458.4:c.238T>G, XM_011510458.3:c.238T>G, XM_011510458.2:c.238T>G, XM_011510458.1:c.238T>G, NM_001142645.2:c.238T>G, NM_001142645.1:c.238T>G, NR_136298.2:n.305T>G, NR_136298.1:n.325T>G, XM_017003100.2:c.268T>G, XM_017003100.1:c.268T>G, XM_017003098.2:c.268T>G, XM_017003098.1:c.268T>G, XR_007068185.1:n.305T>G, XM_047441958.1:c.31T>G, XM_047441941.1:c.238T>G, XM_017003099.1:c.268T>G, XM_047441946.1:c.238T>G, XP_005246269.1:p.Phe11Val, XP_011508761.1:p.Phe11Val, XP_011508760.1:p.Phe80Val, NP_001136117.1:p.Phe80Val, XP_016858589.1:p.Phe90Val, XP_016858587.1:p.Phe90Val, XP_047297914.1:p.Phe11Val, XP_047297897.1:p.Phe80Val, XP_016858588.1:p.Phe90Val, XP_047297902.1:p.Phe80Val

Select item 146524963115.

rs1465249631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190510526 (GRCh38)
2:191375252 (GRCh37)
Canonical SPDI:: NC_000002.12:190510525:T:C
Gene:: NEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190510526T>C, NC_000002.11:g.191375252T>C, XM_005246212.4:c.758A>G, XM_005246212.3:c.758A>G, XM_005246212.2:c.758A>G, XM_005246212.1:c.758A>G, XM_011510459.4:c.758A>G, XM_011510459.3:c.758A>G, XM_011510459.2:c.758A>G, XM_011510459.1:c.758A>G, XM_011510458.4:c.965A>G, XM_011510458.3:c.965A>G, XM_011510458.2:c.965A>G, XM_011510458.1:c.965A>G, NM_001142645.2:c.965A>G, NM_001142645.1:c.965A>G, NR_136298.2:n.986A>G, NR_136298.1:n.1006A>G, XM_017003100.2:c.995A>G, XM_017003100.1:c.995A>G, XM_017003098.2:c.995A>G, XM_017003098.1:c.995A>G, XR_007068185.1:n.1032A>G, XM_047441958.1:c.758A>G, XM_047441961.1:c.542A>G, XM_047441941.1:c.965A>G, XM_017003099.1:c.995A>G, XM_047441946.1:c.965A>G, XP_005246269.1:p.Gln253Arg, XP_011508761.1:p.Gln253Arg, XP_011508760.1:p.Gln322Arg, NP_001136117.1:p.Gln322Arg, XP_016858589.1:p.Gln332Arg, XP_016858587.1:p.Gln332Arg, XP_047297914.1:p.Gln253Arg, XP_047297917.1:p.Gln181Arg, XP_047297897.1:p.Gln322Arg, XP_016858588.1:p.Gln332Arg, XP_047297902.1:p.Gln322Arg

Select item 146432953216.

rs1464329532 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190519142 (GRCh38)
2:191383868 (GRCh37)
Canonical SPDI:: NC_000002.12:190519141:G:A
Gene:: NEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.190519142G>A, NC_000002.11:g.191383868G>A, XM_005246212.4:c.48C>T, XM_005246212.3:c.48C>T, XM_005246212.2:c.48C>T, XM_005246212.1:c.48C>T, XM_011510459.4:c.48C>T, XM_011510459.3:c.48C>T, XM_011510459.2:c.48C>T, XM_011510459.1:c.48C>T, XM_011510458.4:c.255C>T, XM_011510458.3:c.255C>T, XM_011510458.2:c.255C>T, XM_011510458.1:c.255C>T, NM_001142645.2:c.255C>T, NM_001142645.1:c.255C>T, NR_136298.2:n.322C>T, NR_136298.1:n.342C>T, XM_017003100.2:c.285C>T, XM_017003100.1:c.285C>T, XM_017003098.2:c.285C>T, XM_017003098.1:c.285C>T, XR_007068185.1:n.322C>T, XM_047441958.1:c.48C>T, XM_047441941.1:c.255C>T, XM_017003099.1:c.285C>T, XM_047441946.1:c.255C>T

Select item 146244286817.

rs1462442868 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190517543 (GRCh38)
2:191382269 (GRCh37)
Canonical SPDI:: NC_000002.12:190517542:A:G
Gene:: NEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190517543A>G, NC_000002.11:g.191382269A>G, XM_005246212.4:c.382T>C, XM_005246212.3:c.382T>C, XM_005246212.2:c.382T>C, XM_005246212.1:c.382T>C, XM_011510459.4:c.382T>C, XM_011510459.3:c.382T>C, XM_011510459.2:c.382T>C, XM_011510459.1:c.382T>C, XM_011510458.4:c.589T>C, XM_011510458.3:c.589T>C, XM_011510458.2:c.589T>C, XM_011510458.1:c.589T>C, NM_001142645.2:c.589T>C, NM_001142645.1:c.589T>C, NR_136298.2:n.656T>C, NR_136298.1:n.676T>C, XM_017003100.2:c.619T>C, XM_017003100.1:c.619T>C, XM_017003098.2:c.619T>C, XM_017003098.1:c.619T>C, XR_007068185.1:n.656T>C, XM_047441958.1:c.382T>C, XM_047441961.1:c.166T>C, XM_047441941.1:c.589T>C, XM_017003099.1:c.619T>C, XM_047441946.1:c.589T>C

Select item 146237635018.

rs1462376350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190514578 (GRCh38)
2:191379304 (GRCh37)
Canonical SPDI:: NC_000002.12:190514577:T:C
Gene:: NEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.190514578T>C, NC_000002.11:g.191379304T>C, XM_005246212.4:c.621A>G, XM_005246212.3:c.621A>G, XM_005246212.2:c.621A>G, XM_005246212.1:c.621A>G, XM_011510459.4:c.621A>G, XM_011510459.3:c.621A>G, XM_011510459.2:c.621A>G, XM_011510459.1:c.621A>G, XM_011510458.4:c.828A>G, XM_011510458.3:c.828A>G, XM_011510458.2:c.828A>G, XM_011510458.1:c.828A>G, NM_001142645.2:c.828A>G, NM_001142645.1:c.828A>G, NR_136298.2:n.849A>G, NR_136298.1:n.869A>G, XM_017003100.2:c.858A>G, XM_017003100.1:c.858A>G, XM_017003098.2:c.858A>G, XM_017003098.1:c.858A>G, XR_007068185.1:n.895A>G, XM_047441958.1:c.621A>G, XM_047441961.1:c.405A>G, XM_047441941.1:c.828A>G, XM_017003099.1:c.858A>G, XM_047441946.1:c.828A>G

Select item 145571185519.

rs1455711855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:190517526 (GRCh38)
2:191382252 (GRCh37)
Canonical SPDI:: NC_000002.12:190517525:A:C
Gene:: NEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190517526A>C, NC_000002.11:g.191382252A>C, XM_005246212.4:c.399T>G, XM_005246212.3:c.399T>G, XM_005246212.2:c.399T>G, XM_005246212.1:c.399T>G, XM_011510459.4:c.399T>G, XM_011510459.3:c.399T>G, XM_011510459.2:c.399T>G, XM_011510459.1:c.399T>G, XM_011510458.4:c.606T>G, XM_011510458.3:c.606T>G, XM_011510458.2:c.606T>G, XM_011510458.1:c.606T>G, NM_001142645.2:c.606T>G, NM_001142645.1:c.606T>G, NR_136298.2:n.673T>G, NR_136298.1:n.693T>G, XM_017003100.2:c.636T>G, XM_017003100.1:c.636T>G, XM_017003098.2:c.636T>G, XM_017003098.1:c.636T>G, XR_007068185.1:n.673T>G, XM_047441958.1:c.399T>G, XM_047441961.1:c.183T>G, XM_047441941.1:c.606T>G, XM_017003099.1:c.636T>G, XM_047441946.1:c.606T>G, XP_005246269.1:p.Ile133Met, XP_011508761.1:p.Ile133Met, XP_011508760.1:p.Ile202Met, NP_001136117.1:p.Ile202Met, XP_016858589.1:p.Ile212Met, XP_016858587.1:p.Ile212Met, XP_047297914.1:p.Ile133Met, XP_047297917.1:p.Ile61Met, XP_047297897.1:p.Ile202Met, XP_016858588.1:p.Ile212Met, XP_047297902.1:p.Ile202Met

Select item 145473288320.

rs1454732883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190517560 (GRCh38)
2:191382286 (GRCh37)
Canonical SPDI:: NC_000002.12:190517559:A:G
Gene:: NEMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.190517560A>G, NC_000002.11:g.191382286A>G, XM_005246212.4:c.365T>C, XM_005246212.3:c.365T>C, XM_005246212.2:c.365T>C, XM_005246212.1:c.365T>C, XM_011510459.4:c.365T>C, XM_011510459.3:c.365T>C, XM_011510459.2:c.365T>C, XM_011510459.1:c.365T>C, XM_011510458.4:c.572T>C, XM_011510458.3:c.572T>C, XM_011510458.2:c.572T>C, XM_011510458.1:c.572T>C, NM_001142645.2:c.572T>C, NM_001142645.1:c.572T>C, NR_136298.2:n.639T>C, NR_136298.1:n.659T>C, XM_017003100.2:c.602T>C, XM_017003100.1:c.602T>C, XM_017003098.2:c.602T>C, XM_017003098.1:c.602T>C, XR_007068185.1:n.639T>C, XM_047441958.1:c.365T>C, XM_047441961.1:c.149T>C, XM_047441941.1:c.572T>C, XM_017003099.1:c.602T>C, XM_047441946.1:c.572T>C, XP_005246269.1:p.Leu122Ser, XP_011508761.1:p.Leu122Ser, XP_011508760.1:p.Leu191Ser, NP_001136117.1:p.Leu191Ser, XP_016858589.1:p.Leu201Ser, XP_016858587.1:p.Leu201Ser, XP_047297914.1:p.Leu122Ser, XP_047297917.1:p.Leu50Ser, XP_047297897.1:p.Leu191Ser, XP_016858588.1:p.Leu201Ser, XP_047297902.1:p.Leu191Ser

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