SNP Links for Protein (Select 807201160) - SNP

Select item 14843274321.

rs1484327432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:35003806 (GRCh38)
5:35003911 (GRCh37)
Canonical SPDI:: NC_000005.10:35003805:T:C
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35003806T>C, NC_000005.9:g.35003911T>C, NM_031900.4:c.1394A>G, NM_031900.3:c.1394A>G, XM_005248337.4:c.1391A>G, XM_005248337.3:c.1391A>G, XM_005248337.2:c.1391A>G, XM_005248337.1:c.1391A>G, XM_005248338.4:c.1199A>G, XM_005248338.3:c.1199A>G, XM_005248338.2:c.1199A>G, XM_005248338.1:c.1199A>G, XM_017009748.3:c.1169A>G, XM_017009748.2:c.1169A>G, XM_017009748.1:c.1169A>G, NM_001306173.2:c.1169A>G, NM_001306173.1:c.1169A>G, XM_047417534.1:c.1118A>G, NP_114106.1:p.Lys465Arg, XP_005248394.1:p.Lys464Arg, XP_005248395.1:p.Lys400Arg, XP_016865237.1:p.Lys390Arg, NP_001293102.1:p.Lys390Arg, XP_047273490.1:p.Lys373Arg

Select item 14832988932.

rs1483298893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:35036949 (GRCh38)
5:35037054 (GRCh37)
Canonical SPDI:: NC_000005.10:35036948:G:C
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.35036949G>C, NC_000005.9:g.35037054G>C, NM_031900.4:c.479C>G, NM_031900.3:c.479C>G, XM_005248337.4:c.476C>G, XM_005248337.3:c.476C>G, XM_005248337.2:c.476C>G, XM_005248337.1:c.476C>G, XM_005248338.4:c.479C>G, XM_005248338.3:c.479C>G, XM_005248338.2:c.479C>G, XM_005248338.1:c.479C>G, XM_017009748.3:c.479C>G, XM_017009748.2:c.479C>G, XM_017009748.1:c.479C>G, NM_001306173.2:c.479C>G, NM_001306173.1:c.479C>G, XM_047417534.1:c.203C>G, NP_114106.1:p.Pro160Arg, XP_005248394.1:p.Pro159Arg, XP_005248395.1:p.Pro160Arg, XP_016865237.1:p.Pro160Arg, NP_001293102.1:p.Pro160Arg, XP_047273490.1:p.Pro68Arg

Select item 14786698283.

rs1478669828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:35033479 (GRCh38)
5:35033584 (GRCh37)
Canonical SPDI:: NC_000005.10:35033478:C:T
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.35033479C>T, NC_000005.9:g.35033584C>T, NM_031900.4:c.656G>A, NM_031900.3:c.656G>A, XM_005248337.4:c.653G>A, XM_005248337.3:c.653G>A, XM_005248337.2:c.653G>A, XM_005248337.1:c.653G>A, XM_005248338.4:c.656G>A, XM_005248338.3:c.656G>A, XM_005248338.2:c.656G>A, XM_005248338.1:c.656G>A, XM_017009748.3:c.656G>A, XM_017009748.2:c.656G>A, XM_017009748.1:c.656G>A, NM_001306173.2:c.656G>A, NM_001306173.1:c.656G>A, XM_047417534.1:c.380G>A, NP_114106.1:p.Gly219Asp, XP_005248394.1:p.Gly218Asp, XP_005248395.1:p.Gly219Asp, XP_016865237.1:p.Gly219Asp, NP_001293102.1:p.Gly219Asp, XP_047273490.1:p.Gly127Asp

Select item 14786251894.

rs1478625189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:35039447 (GRCh38)
5:35039552 (GRCh37)
Canonical SPDI:: NC_000005.10:35039446:G:A
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35039447G>A, NC_000005.9:g.35039552G>A, NM_031900.4:c.239C>T, NM_031900.3:c.239C>T, XM_005248337.4:c.236C>T, XM_005248337.3:c.236C>T, XM_005248337.2:c.236C>T, XM_005248337.1:c.236C>T, XM_005248338.4:c.239C>T, XM_005248338.3:c.239C>T, XM_005248338.2:c.239C>T, XM_005248338.1:c.239C>T, XM_017009748.3:c.239C>T, XM_017009748.2:c.239C>T, XM_017009748.1:c.239C>T, NM_001306173.2:c.239C>T, NM_001306173.1:c.239C>T, XM_047417534.1:c.-38C>T, NP_114106.1:p.Ala80Val, XP_005248394.1:p.Ala79Val, XP_005248395.1:p.Ala80Val, XP_016865237.1:p.Ala80Val, NP_001293102.1:p.Ala80Val

Select item 14785173155.

rs1478517315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:35035306 (GRCh38)
5:35035411 (GRCh37)
Canonical SPDI:: NC_000005.10:35035305:A:T
Gene:: AGXT2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35035306A>T, NC_000005.9:g.35035411A>T, NM_031900.4:c.497T>A, NM_031900.3:c.497T>A, XM_005248337.4:c.494T>A, XM_005248337.3:c.494T>A, XM_005248337.2:c.494T>A, XM_005248337.1:c.494T>A, XM_005248338.4:c.497T>A, XM_005248338.3:c.497T>A, XM_005248338.2:c.497T>A, XM_005248338.1:c.497T>A, XM_017009748.3:c.497T>A, XM_017009748.2:c.497T>A, XM_017009748.1:c.497T>A, NM_001306173.2:c.497T>A, NM_001306173.1:c.497T>A, XM_047417534.1:c.221T>A, NP_114106.1:p.Leu166Ter, XP_005248394.1:p.Leu165Ter, XP_005248395.1:p.Leu166Ter, XP_016865237.1:p.Leu166Ter, NP_001293102.1:p.Leu166Ter, XP_047273490.1:p.Leu74Ter

Select item 14753471416.

rs1475347141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:35035225 (GRCh38)
5:35035330 (GRCh37)
Canonical SPDI:: NC_000005.10:35035224:A:G,NC_000005.10:35035224:A:T
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.35035225A>G, NC_000005.10:g.35035225A>T, NC_000005.9:g.35035330A>G, NC_000005.9:g.35035330A>T, NM_031900.4:c.578T>C, NM_031900.4:c.578T>A, NM_031900.3:c.578T>C, NM_031900.3:c.578T>A, XM_005248337.4:c.575T>C, XM_005248337.4:c.575T>A, XM_005248337.3:c.575T>C, XM_005248337.3:c.575T>A, XM_005248337.2:c.575T>C, XM_005248337.2:c.575T>A, XM_005248337.1:c.575T>C, XM_005248337.1:c.575T>A, XM_005248338.4:c.578T>C, XM_005248338.4:c.578T>A, XM_005248338.3:c.578T>C, XM_005248338.3:c.578T>A, XM_005248338.2:c.578T>C, XM_005248338.2:c.578T>A, XM_005248338.1:c.578T>C, XM_005248338.1:c.578T>A, XM_017009748.3:c.578T>C, XM_017009748.3:c.578T>A, XM_017009748.2:c.578T>C, XM_017009748.2:c.578T>A, XM_017009748.1:c.578T>C, XM_017009748.1:c.578T>A, NM_001306173.2:c.578T>C, NM_001306173.2:c.578T>A, NM_001306173.1:c.578T>C, NM_001306173.1:c.578T>A, XM_047417534.1:c.302T>C, XM_047417534.1:c.302T>A, NP_114106.1:p.Phe193Ser, NP_114106.1:p.Phe193Tyr, XP_005248394.1:p.Phe192Ser, XP_005248394.1:p.Phe192Tyr, XP_005248395.1:p.Phe193Ser, XP_005248395.1:p.Phe193Tyr, XP_016865237.1:p.Phe193Ser, XP_016865237.1:p.Phe193Tyr, NP_001293102.1:p.Phe193Ser, NP_001293102.1:p.Phe193Tyr, XP_047273490.1:p.Phe101Ser, XP_047273490.1:p.Phe101Tyr

Select item 14749310697.

rs1474931069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:35033461 (GRCh38)
5:35033566 (GRCh37)
Canonical SPDI:: NC_000005.10:35033460:G:C
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35033461G>C, NC_000005.9:g.35033566G>C, NM_031900.4:c.674C>G, NM_031900.3:c.674C>G, XM_005248337.4:c.671C>G, XM_005248337.3:c.671C>G, XM_005248337.2:c.671C>G, XM_005248337.1:c.671C>G, XM_005248338.4:c.674C>G, XM_005248338.3:c.674C>G, XM_005248338.2:c.674C>G, XM_005248338.1:c.674C>G, XM_017009748.3:c.674C>G, XM_017009748.2:c.674C>G, XM_017009748.1:c.674C>G, NM_001306173.2:c.674C>G, NM_001306173.1:c.674C>G, XM_047417534.1:c.398C>G, NP_114106.1:p.Pro225Arg, XP_005248394.1:p.Pro224Arg, XP_005248395.1:p.Pro225Arg, XP_016865237.1:p.Pro225Arg, NP_001293102.1:p.Pro225Arg, XP_047273490.1:p.Pro133Arg

Select item 14724889878.

rs1472488987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:35010078 (GRCh38)
5:35010183 (GRCh37)
Canonical SPDI:: NC_000005.10:35010077:C:T
Gene:: AGXT2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000005.10:g.35010078C>T, NC_000005.9:g.35010183C>T, NM_031900.4:c.1260G>A, NM_031900.3:c.1260G>A, XM_005248337.4:c.1257G>A, XM_005248337.3:c.1257G>A, XM_005248337.2:c.1257G>A, XM_005248337.1:c.1257G>A, XM_005248338.4:c.1065G>A, XM_005248338.3:c.1065G>A, XM_005248338.2:c.1065G>A, XM_005248338.1:c.1065G>A, XM_017009748.3:c.1035G>A, XM_017009748.2:c.1035G>A, XM_017009748.1:c.1035G>A, NM_001306173.2:c.1035G>A, NM_001306173.1:c.1035G>A, XM_047417534.1:c.984G>A

Select item 14720657059.

rs1472065705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:35026489 (GRCh38)
5:35026594 (GRCh37)
Canonical SPDI:: NC_000005.10:35026488:T:C
Gene:: AGXT2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.35026489T>C, NC_000005.9:g.35026594T>C, NM_031900.4:c.791A>G, NM_031900.3:c.791A>G, XM_005248337.4:c.788A>G, XM_005248337.3:c.788A>G, XM_005248337.2:c.788A>G, XM_005248337.1:c.788A>G, XM_017009748.3:c.791A>G, XM_017009748.2:c.791A>G, XM_017009748.1:c.791A>G, NM_001306173.2:c.791A>G, NM_001306173.1:c.791A>G, XM_047417534.1:c.515A>G, NP_114106.1:p.Gln264Arg, XP_005248394.1:p.Gln263Arg, XP_016865237.1:p.Gln264Arg, NP_001293102.1:p.Gln264Arg, XP_047273490.1:p.Gln172Arg

Select item 146767242610.

rs1467672426 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCT>- [Show Flanks]
Chromosome:: 5:35036974 (GRCh38)
5:35037079 (GRCh37)
Canonical SPDI:: NC_000005.10:35036971:CTTCT:CT
Gene:: AGXT2 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.35036974_35036976del, NC_000005.9:g.35037079_35037081del, NM_031900.4:c.454_456del, NM_031900.3:c.454_456del, XM_005248337.4:c.451_453del, XM_005248337.3:c.451_453del, XM_005248337.2:c.451_453del, XM_005248337.1:c.451_453del, XM_005248338.4:c.454_456del, XM_005248338.3:c.454_456del, XM_005248338.2:c.454_456del, XM_005248338.1:c.454_456del, XM_017009748.3:c.454_456del, XM_017009748.2:c.454_456del, XM_017009748.1:c.454_456del, NM_001306173.2:c.454_456del, NM_001306173.1:c.454_456del, XM_047417534.1:c.178_180del, NP_114106.1:p.Lys152del, XP_005248394.1:p.Lys151del, XP_005248395.1:p.Lys152del, XP_016865237.1:p.Lys152del, NP_001293102.1:p.Lys152del, XP_047273490.1:p.Lys60del

Select item 146698285811.

rs1466982858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:35037018 (GRCh38)
5:35037123 (GRCh37)
Canonical SPDI:: NC_000005.10:35037017:G:C
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35037018G>C, NC_000005.9:g.35037123G>C, NM_031900.4:c.410C>G, NM_031900.3:c.410C>G, XM_005248337.4:c.407C>G, XM_005248337.3:c.407C>G, XM_005248337.2:c.407C>G, XM_005248337.1:c.407C>G, XM_005248338.4:c.410C>G, XM_005248338.3:c.410C>G, XM_005248338.2:c.410C>G, XM_005248338.1:c.410C>G, XM_017009748.3:c.410C>G, XM_017009748.2:c.410C>G, XM_017009748.1:c.410C>G, NM_001306173.2:c.410C>G, NM_001306173.1:c.410C>G, XM_047417534.1:c.134C>G, NP_114106.1:p.Thr137Arg, XP_005248394.1:p.Thr136Arg, XP_005248395.1:p.Thr137Arg, XP_016865237.1:p.Thr137Arg, NP_001293102.1:p.Thr137Arg, XP_047273490.1:p.Thr45Arg

Select item 146462662112.

rs1464626621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:35040648 (GRCh38)
5:35040753 (GRCh37)
Canonical SPDI:: NC_000005.10:35040647:G:C
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35040648G>C, NC_000005.9:g.35040753G>C, NM_031900.4:c.104C>G, NM_031900.3:c.104C>G, XM_005248337.4:c.101C>G, XM_005248337.3:c.101C>G, XM_005248337.2:c.101C>G, XM_005248337.1:c.101C>G, XM_005248338.4:c.104C>G, XM_005248338.3:c.104C>G, XM_005248338.2:c.104C>G, XM_005248338.1:c.104C>G, XM_017009748.3:c.104C>G, XM_017009748.2:c.104C>G, XM_017009748.1:c.104C>G, NM_001306173.2:c.104C>G, NM_001306173.1:c.104C>G, NP_114106.1:p.Thr35Arg, XP_005248394.1:p.Thr34Arg, XP_005248395.1:p.Thr35Arg, XP_016865237.1:p.Thr35Arg, NP_001293102.1:p.Thr35Arg

Select item 146449618013.

rs1464496180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:34998821 (GRCh38)
5:34998926 (GRCh37)
Canonical SPDI:: NC_000005.10:34998820:A:T
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.34998821A>T, NC_000005.9:g.34998926A>T, NM_031900.4:c.1443T>A, NM_031900.3:c.1443T>A, XM_005248337.4:c.1440T>A, XM_005248337.3:c.1440T>A, XM_005248337.2:c.1440T>A, XM_005248337.1:c.1440T>A, XM_005248338.4:c.1248T>A, XM_005248338.3:c.1248T>A, XM_005248338.2:c.1248T>A, XM_005248338.1:c.1248T>A, XM_017009748.3:c.1218T>A, XM_017009748.2:c.1218T>A, XM_017009748.1:c.1218T>A, NM_001306173.2:c.1218T>A, NM_001306173.1:c.1218T>A, XM_047417534.1:c.1167T>A, NP_114106.1:p.Phe481Leu, XP_005248394.1:p.Phe480Leu, XP_005248395.1:p.Phe416Leu, XP_016865237.1:p.Phe406Leu, NP_001293102.1:p.Phe406Leu, XP_047273490.1:p.Phe389Leu

Select item 146427485714.

rs1464274857 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:35003767 (GRCh38)
5:35003873 (GRCh37)
Canonical SPDI:: NC_000005.10:35003767:AAAAAA:AAAAAAA
Gene:: AGXT2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35003773dup, NC_000005.9:g.35003878dup, NM_031900.4:c.1432dup, NM_031900.3:c.1432dup, XM_005248337.4:c.1429dup, XM_005248337.3:c.1429dup, XM_005248337.2:c.1429dup, XM_005248337.1:c.1429dup, XM_005248338.4:c.1237dup, XM_005248338.3:c.1237dup, XM_005248338.2:c.1237dup, XM_005248338.1:c.1237dup, XM_017009748.3:c.1207dup, XM_017009748.2:c.1207dup, XM_017009748.1:c.1207dup, NM_001306173.2:c.1207dup, NM_001306173.1:c.1207dup, XM_047417534.1:c.1156dup, NP_114106.1:p.Ser478fs, XP_005248394.1:p.Ser477fs, XP_005248395.1:p.Ser413fs, XP_016865237.1:p.Ser403fs, NP_001293102.1:p.Ser403fs, XP_047273490.1:p.Ser386fs

Select item 146165663615.

rs1461656636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:35010070 (GRCh38)
5:35010175 (GRCh37)
Canonical SPDI:: NC_000005.10:35010069:T:C
Gene:: AGXT2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.35010070T>C, NC_000005.9:g.35010175T>C, NM_031900.4:c.1268A>G, NM_031900.3:c.1268A>G, XM_005248337.4:c.1265A>G, XM_005248337.3:c.1265A>G, XM_005248337.2:c.1265A>G, XM_005248337.1:c.1265A>G, XM_005248338.4:c.1073A>G, XM_005248338.3:c.1073A>G, XM_005248338.2:c.1073A>G, XM_005248338.1:c.1073A>G, XM_017009748.3:c.1043A>G, XM_017009748.2:c.1043A>G, XM_017009748.1:c.1043A>G, NM_001306173.2:c.1043A>G, NM_001306173.1:c.1043A>G, XM_047417534.1:c.992A>G, NP_114106.1:p.Asp423Gly, XP_005248394.1:p.Asp422Gly, XP_005248395.1:p.Asp358Gly, XP_016865237.1:p.Asp348Gly, NP_001293102.1:p.Asp348Gly, XP_047273490.1:p.Asp331Gly

Select item 145938129416.

rs1459381294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:35039431 (GRCh38)
5:35039536 (GRCh37)
Canonical SPDI:: NC_000005.10:35039430:G:C
Gene:: AGXT2 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.35039431G>C, NC_000005.9:g.35039536G>C, NM_031900.4:c.255C>G, NM_031900.3:c.255C>G, XM_005248337.4:c.252C>G, XM_005248337.3:c.252C>G, XM_005248337.2:c.252C>G, XM_005248337.1:c.252C>G, XM_005248338.4:c.255C>G, XM_005248338.3:c.255C>G, XM_005248338.2:c.255C>G, XM_005248338.1:c.255C>G, XM_017009748.3:c.255C>G, XM_017009748.2:c.255C>G, XM_017009748.1:c.255C>G, NM_001306173.2:c.255C>G, NM_001306173.1:c.255C>G, XM_047417534.1:c.-22C>G

Select item 145654872817.

rs1456548728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:35037026 (GRCh38)
5:35037131 (GRCh37)
Canonical SPDI:: NC_000005.10:35037025:C:A
Gene:: AGXT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.35037026C>A, NC_000005.9:g.35037131C>A, NM_031900.4:c.402G>T, NM_031900.3:c.402G>T, XM_005248337.4:c.399G>T, XM_005248337.3:c.399G>T, XM_005248337.2:c.399G>T, XM_005248337.1:c.399G>T, XM_005248338.4:c.402G>T, XM_005248338.3:c.402G>T, XM_005248338.2:c.402G>T, XM_005248338.1:c.402G>T, XM_017009748.3:c.402G>T, XM_017009748.2:c.402G>T, XM_017009748.1:c.402G>T, NM_001306173.2:c.402G>T, NM_001306173.1:c.402G>T, XM_047417534.1:c.126G>T

Select item 145588344318.

rs1455883443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:35025765 (GRCh38)
5:35025870 (GRCh37)
Canonical SPDI:: NC_000005.10:35025764:C:A
Gene:: AGXT2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35025765C>A, NC_000005.9:g.35025870C>A, NM_031900.4:c.961G>T, NM_031900.3:c.961G>T, XM_005248337.4:c.958G>T, XM_005248337.3:c.958G>T, XM_005248337.2:c.958G>T, XM_005248337.1:c.958G>T, XM_005248338.4:c.766G>T, XM_005248338.3:c.766G>T, XM_005248338.2:c.766G>T, XM_005248338.1:c.766G>T, XM_017009748.3:c.961G>T, XM_017009748.2:c.961G>T, XM_017009748.1:c.961G>T, NM_001306173.2:c.961G>T, NM_001306173.1:c.961G>T, XM_047417534.1:c.685G>T, NP_114106.1:p.Glu321Ter, XP_005248394.1:p.Glu320Ter, XP_005248395.1:p.Glu256Ter, XP_016865237.1:p.Glu321Ter, NP_001293102.1:p.Glu321Ter, XP_047273490.1:p.Glu229Ter

Select item 145275131219.

rs1452751312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:35039505 (GRCh38)
5:35039610 (GRCh37)
Canonical SPDI:: NC_000005.10:35039504:G:A
Gene:: AGXT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.35039505G>A, NC_000005.9:g.35039610G>A, NM_031900.4:c.181C>T, NM_031900.3:c.181C>T, XM_005248337.4:c.178C>T, XM_005248337.3:c.178C>T, XM_005248337.2:c.178C>T, XM_005248337.1:c.178C>T, XM_005248338.4:c.181C>T, XM_005248338.3:c.181C>T, XM_005248338.2:c.181C>T, XM_005248338.1:c.181C>T, XM_017009748.3:c.181C>T, XM_017009748.2:c.181C>T, XM_017009748.1:c.181C>T, NM_001306173.2:c.181C>T, NM_001306173.1:c.181C>T, XM_047417534.1:c.-96C>T, NP_114106.1:p.Leu61Phe, XP_005248394.1:p.Leu60Phe, XP_005248395.1:p.Leu61Phe, XP_016865237.1:p.Leu61Phe, NP_001293102.1:p.Leu61Phe

Select item 145205468520.

rs1452054685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:34998742 (GRCh38)
5:34998847 (GRCh37)
Canonical SPDI:: NC_000005.10:34998741:G:A
Gene:: AGXT2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000005.10:g.34998742G>A, NC_000005.9:g.34998847G>A, NM_031900.4:c.1522C>T, NM_031900.3:c.1522C>T, XM_005248337.4:c.1519C>T, XM_005248337.3:c.1519C>T, XM_005248337.2:c.1519C>T, XM_005248337.1:c.1519C>T, XM_005248338.4:c.1327C>T, XM_005248338.3:c.1327C>T, XM_005248338.2:c.1327C>T, XM_005248338.1:c.1327C>T, XM_017009748.3:c.1297C>T, XM_017009748.2:c.1297C>T, XM_017009748.1:c.1297C>T, NM_001306173.2:c.1297C>T, NM_001306173.1:c.1297C>T, XM_047417534.1:c.1246C>T, NP_114106.1:p.His508Tyr, XP_005248394.1:p.His507Tyr, XP_005248395.1:p.His443Tyr, XP_016865237.1:p.His433Tyr, NP_001293102.1:p.His433Tyr, XP_047273490.1:p.His416Tyr

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Result Filters

Clinical Significance

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Items: 1 to 20 of 496

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