SNP Links for Protein (Select 530375103) - SNP

Links from Protein

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Select item 14894621051.

rs1489462105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185619367 (GRCh38)
3:185337155 (GRCh37)
Canonical SPDI:: NC_000003.12:185619366:A:G
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185619367A>G, NC_000003.11:g.185337155A>G, XM_005247690.4:c.1179A>G, XM_005247690.3:c.1179A>G, XM_005247690.2:c.1179A>G, XM_005247690.1:c.1404A>G, XM_005247691.4:c.966A>G, XM_005247691.3:c.966A>G, XM_005247691.2:c.966A>G, XM_005247691.1:c.966A>G, NM_021627.3:c.1311A>G, NM_021627.2:c.1311A>G

Select item 14860264672.

rs1486026467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185600845 (GRCh38)
3:185318633 (GRCh37)
Canonical SPDI:: NC_000003.12:185600844:C:T
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185600845C>T, NC_000003.11:g.185318633C>T, XM_005247690.4:c.439C>T, XM_005247690.3:c.439C>T, XM_005247690.2:c.439C>T, XM_005247690.1:c.664C>T, XM_005247691.4:c.94C>T, XM_005247691.3:c.94C>T, XM_005247691.2:c.94C>T, XM_005247691.1:c.94C>T, NM_021627.3:c.439C>T, NM_021627.2:c.439C>T, XP_005247747.2:p.Pro147Ser, XP_005247748.1:p.Pro32Ser, NP_067640.2:p.Pro147Ser

Select item 14855983883.

rs1485598388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:185614573 (GRCh38)
3:185332361 (GRCh37)
Canonical SPDI:: NC_000003.12:185614572:T:C
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185614573T>C, NC_000003.11:g.185332361T>C, XM_005247690.4:c.943T>C, XM_005247690.3:c.943T>C, XM_005247690.2:c.943T>C, XM_005247690.1:c.1168T>C, XM_005247691.4:c.598T>C, XM_005247691.3:c.598T>C, XM_005247691.2:c.598T>C, XM_005247691.1:c.598T>C, NM_021627.3:c.943T>C, NM_021627.2:c.943T>C, XP_005247747.2:p.Tyr315His, XP_005247748.1:p.Tyr200His, NP_067640.2:p.Tyr315His

Select item 14836320334.

rs1483632033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185624026 (GRCh38)
3:185341814 (GRCh37)
Canonical SPDI:: NC_000003.12:185624025:A:G
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185624026A>G, NC_000003.11:g.185341814A>G, XM_005247690.4:c.1423A>G, XM_005247690.3:c.1423A>G, XM_005247690.2:c.1423A>G, XM_005247690.1:c.1648A>G, XM_005247691.4:c.1210A>G, XM_005247691.3:c.1210A>G, XM_005247691.2:c.1210A>G, XM_005247691.1:c.1210A>G, NM_021627.3:c.1555A>G, NM_021627.2:c.1555A>G, XP_005247747.2:p.Lys475Glu, XP_005247748.1:p.Lys404Glu, NP_067640.2:p.Lys519Glu

Select item 14820721965.

rs1482072196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185614654 (GRCh38)
3:185332442 (GRCh37)
Canonical SPDI:: NC_000003.12:185614653:A:G
Gene:: SENP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185614654A>G, NC_000003.11:g.185332442A>G, XM_005247690.4:c.1024A>G, XM_005247690.3:c.1024A>G, XM_005247690.2:c.1024A>G, XM_005247690.1:c.1249A>G, XM_005247691.4:c.679A>G, XM_005247691.3:c.679A>G, XM_005247691.2:c.679A>G, XM_005247691.1:c.679A>G, NM_021627.3:c.1024A>G, NM_021627.2:c.1024A>G, XP_005247747.2:p.Lys342Glu, XP_005247748.1:p.Lys227Glu, NP_067640.2:p.Lys342Glu

Select item 14817893936.

rs1481789393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:185606431 (GRCh38)
3:185324219 (GRCh37)
Canonical SPDI:: NC_000003.12:185606430:C:A
Gene:: SENP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185606431C>A, NC_000003.11:g.185324219C>A, XM_005247690.4:c.551C>A, XM_005247690.3:c.551C>A, XM_005247690.2:c.551C>A, XM_005247690.1:c.776C>A, XM_005247691.4:c.206C>A, XM_005247691.3:c.206C>A, XM_005247691.2:c.206C>A, XM_005247691.1:c.206C>A, NM_021627.3:c.551C>A, NM_021627.2:c.551C>A, XP_005247747.2:p.Ala184Asp, XP_005247748.1:p.Ala69Asp, NP_067640.2:p.Ala184Asp

Select item 14806020777.

rs1480602077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:185609261 (GRCh38)
3:185327049 (GRCh37)
Canonical SPDI:: NC_000003.12:185609260:G:A,NC_000003.12:185609260:G:T
Gene:: SENP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.185609261G>A, NC_000003.12:g.185609261G>T, NC_000003.11:g.185327049G>A, NC_000003.11:g.185327049G>T, XM_005247690.4:c.633G>A, XM_005247690.4:c.633G>T, XM_005247690.3:c.633G>A, XM_005247690.3:c.633G>T, XM_005247690.2:c.633G>A, XM_005247690.2:c.633G>T, XM_005247690.1:c.858G>A, XM_005247690.1:c.858G>T, XM_005247691.4:c.288G>A, XM_005247691.4:c.288G>T, XM_005247691.3:c.288G>A, XM_005247691.3:c.288G>T, XM_005247691.2:c.288G>A, XM_005247691.2:c.288G>T, XM_005247691.1:c.288G>A, XM_005247691.1:c.288G>T, NM_021627.3:c.633G>A, NM_021627.3:c.633G>T, NM_021627.2:c.633G>A, NM_021627.2:c.633G>T, XP_005247747.2:p.Glu211Asp, XP_005247748.1:p.Glu96Asp, NP_067640.2:p.Glu211Asp

Select item 14760549508.

rs1476054950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185611738 (GRCh38)
3:185329526 (GRCh37)
Canonical SPDI:: NC_000003.12:185611737:A:G
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185611738A>G, NC_000003.11:g.185329526A>G, XM_005247690.4:c.810A>G, XM_005247690.3:c.810A>G, XM_005247690.2:c.810A>G, XM_005247690.1:c.1035A>G, XM_005247691.4:c.465A>G, XM_005247691.3:c.465A>G, XM_005247691.2:c.465A>G, XM_005247691.1:c.465A>G, NM_021627.3:c.810A>G, NM_021627.2:c.810A>G

Select item 14740847499.

rs1474084749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185617604 (GRCh38)
3:185335392 (GRCh37)
Canonical SPDI:: NC_000003.12:185617603:A:G
Gene:: SENP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185617604A>G, NC_000003.11:g.185335392A>G, XM_005247691.4:c.890A>G, XM_005247691.3:c.890A>G, XM_005247691.2:c.890A>G, XM_005247691.1:c.890A>G, NM_021627.3:c.1235A>G, NM_021627.2:c.1235A>G, XP_005247748.1:p.Asn297Ser, NP_067640.2:p.Asn412Ser

Select item 146682844010.

rs1466828440 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185624057 (GRCh38)
3:185341845 (GRCh37)
Canonical SPDI:: NC_000003.12:185624056:G:A
Gene:: SENP2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000003.12:g.185624057G>A, NC_000003.11:g.185341845G>A, XM_005247690.4:c.1454G>A, XM_005247690.3:c.1454G>A, XM_005247690.2:c.1454G>A, XM_005247690.1:c.1679G>A, XM_005247691.4:c.1241G>A, XM_005247691.3:c.1241G>A, XM_005247691.2:c.1241G>A, XM_005247691.1:c.1241G>A, NM_021627.3:c.1586G>A, NM_021627.2:c.1586G>A, XP_005247747.2:p.Trp485Ter, XP_005247748.1:p.Trp414Ter, NP_067640.2:p.Trp529Ter

Select item 145958850011.

rs1459588500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:185617598 (GRCh38)
3:185335386 (GRCh37)
Canonical SPDI:: NC_000003.12:185617597:G:T
Gene:: SENP2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185617598G>T, NC_000003.11:g.185335386G>T, XM_005247691.4:c.884G>T, XM_005247691.3:c.884G>T, XM_005247691.2:c.884G>T, XM_005247691.1:c.884G>T, NM_021627.3:c.1229G>T, NM_021627.2:c.1229G>T, XP_005247748.1:p.Trp295Leu, NP_067640.2:p.Trp410Leu

Select item 145532779912.

rs1455327799 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185612612 (GRCh38)
3:185330400 (GRCh37)
Canonical SPDI:: NC_000003.12:185612611:C:T
Gene:: SENP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.185612612C>T, NC_000003.11:g.185330400C>T, XM_005247690.4:c.823C>T, XM_005247690.3:c.823C>T, XM_005247690.2:c.823C>T, XM_005247690.1:c.1048C>T, XM_005247691.4:c.478C>T, XM_005247691.3:c.478C>T, XM_005247691.2:c.478C>T, XM_005247691.1:c.478C>T, NM_021627.3:c.823C>T, NM_021627.2:c.823C>T, XP_005247747.2:p.Leu275Phe, XP_005247748.1:p.Leu160Phe, NP_067640.2:p.Leu275Phe

Select item 145319043113.

rs1453190431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:185617538 (GRCh38)
3:185335326 (GRCh37)
Canonical SPDI:: NC_000003.12:185617537:G:A,NC_000003.12:185617537:G:T
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185617538G>A, NC_000003.12:g.185617538G>T, NC_000003.11:g.185335326G>A, NC_000003.11:g.185335326G>T, XM_005247691.4:c.824G>A, XM_005247691.4:c.824G>T, XM_005247691.3:c.824G>A, XM_005247691.3:c.824G>T, XM_005247691.2:c.824G>A, XM_005247691.2:c.824G>T, XM_005247691.1:c.824G>A, XM_005247691.1:c.824G>T, NM_021627.3:c.1169G>A, NM_021627.3:c.1169G>T, NM_021627.2:c.1169G>A, NM_021627.2:c.1169G>T, XP_005247748.1:p.Ser275Asn, XP_005247748.1:p.Ser275Ile, NP_067640.2:p.Ser390Asn, NP_067640.2:p.Ser390Ile

Select item 145244075014.

rs1452440750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185614611 (GRCh38)
3:185332399 (GRCh37)
Canonical SPDI:: NC_000003.12:185614610:C:T
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185614611C>T, NC_000003.11:g.185332399C>T, XM_005247690.4:c.981C>T, XM_005247690.3:c.981C>T, XM_005247690.2:c.981C>T, XM_005247690.1:c.1206C>T, XM_005247691.4:c.636C>T, XM_005247691.3:c.636C>T, XM_005247691.2:c.636C>T, XM_005247691.1:c.636C>T, NM_021627.3:c.981C>T, NM_021627.2:c.981C>T

Select item 145224337015.

rs1452243370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:185611685 (GRCh38)
3:185329473 (GRCh37)
Canonical SPDI:: NC_000003.12:185611684:A:C
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185611685A>C, NC_000003.11:g.185329473A>C, XM_005247690.4:c.757A>C, XM_005247690.3:c.757A>C, XM_005247690.2:c.757A>C, XM_005247690.1:c.982A>C, XM_005247691.4:c.412A>C, XM_005247691.3:c.412A>C, XM_005247691.2:c.412A>C, XM_005247691.1:c.412A>C, NM_021627.3:c.757A>C, NM_021627.2:c.757A>C, XP_005247747.2:p.Lys253Gln, XP_005247748.1:p.Lys138Gln, NP_067640.2:p.Lys253Gln

Select item 145194981016.

rs1451949810 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTG>- [Show Flanks]
Chromosome:: 3:185612616 (GRCh38)
3:185330404 (GRCh37)
Canonical SPDI:: NC_000003.12:185612612:TTGTTG:TTG
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185612613TTG[1], NC_000003.11:g.185330401TTG[1], XM_005247690.4:c.824TTG[1], XM_005247690.3:c.824TTG[1], XM_005247690.2:c.824TTG[1], XM_005247690.1:c.1049TTG[1], XM_005247691.4:c.479TTG[1], XM_005247691.3:c.479TTG[1], XM_005247691.2:c.479TTG[1], XM_005247691.1:c.479TTG[1], NM_021627.3:c.824TTG[1], NM_021627.2:c.824TTG[1], XP_005247747.2:p.Val276del, XP_005247748.1:p.Val161del, NP_067640.2:p.Val276del

Select item 145160120117.

rs1451601201 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGA>- [Show Flanks]
Chromosome:: 3:185606361 (GRCh38)
3:185324149 (GRCh37)
Canonical SPDI:: NC_000003.12:185606357:AGAAGA:AGA
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAGA=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.185606358AGA[1], NC_000003.11:g.185324146AGA[1], XM_005247690.4:c.478AGA[1], XM_005247690.3:c.478AGA[1], XM_005247690.2:c.478AGA[1], XM_005247690.1:c.703AGA[1], XM_005247691.4:c.133AGA[1], XM_005247691.3:c.133AGA[1], XM_005247691.2:c.133AGA[1], XM_005247691.1:c.133AGA[1], NM_021627.3:c.478AGA[1], NM_021627.2:c.478AGA[1], XP_005247747.2:p.Arg161del, XP_005247748.1:p.Arg46del, NP_067640.2:p.Arg161del

Select item 144533281818.

rs1445332818 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185613365 (GRCh38)
3:185331153 (GRCh37)
Canonical SPDI:: NC_000003.12:185613364:C:T
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185613365C>T, NC_000003.11:g.185331153C>T, XM_005247690.4:c.890C>T, XM_005247690.3:c.890C>T, XM_005247690.2:c.890C>T, XM_005247690.1:c.1115C>T, XM_005247691.4:c.545C>T, XM_005247691.3:c.545C>T, XM_005247691.2:c.545C>T, XM_005247691.1:c.545C>T, NM_021627.3:c.890C>T, NM_021627.2:c.890C>T, XP_005247747.2:p.Thr297Ile, XP_005247748.1:p.Thr182Ile, NP_067640.2:p.Thr297Ile

Select item 144020967619.

rs1440209676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185629838 (GRCh38)
3:185347626 (GRCh37)
Canonical SPDI:: NC_000003.12:185629837:G:A
Gene:: SENP2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.185629838G>A, NC_000003.11:g.185347626G>A, XM_005247690.4:c.1632G>A, XM_005247690.3:c.1632G>A, XM_005247690.2:c.1632G>A, XM_005247690.1:c.1857G>A, XM_005247691.4:c.1419G>A, XM_005247691.3:c.1419G>A, XM_005247691.2:c.1419G>A, XM_005247691.1:c.1419G>A, NM_021627.3:c.1764G>A, NM_021627.2:c.1764G>A

Select item 142539694620.

rs1425396946 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:185629785 (GRCh38)
3:185347573 (GRCh37)
Canonical SPDI:: NC_000003.12:185629784:C:G
Gene:: SENP2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.185629785C>G, NC_000003.11:g.185347573C>G, XM_005247690.4:c.1579C>G, XM_005247690.3:c.1579C>G, XM_005247690.2:c.1579C>G, XM_005247690.1:c.1804C>G, XM_005247691.4:c.1366C>G, XM_005247691.3:c.1366C>G, XM_005247691.2:c.1366C>G, XM_005247691.1:c.1366C>G, NM_021627.3:c.1711C>G, NM_021627.2:c.1711C>G, XP_005247747.2:p.Gln527Glu, XP_005247748.1:p.Gln456Glu, NP_067640.2:p.Gln571Glu

dbSNP

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