Canonical Allele Identifier: CA348405840

Gene: PROC

Linked Data

• dbSNP Id: rs1412515866
• gnomAD v2: 2-128186248-A-G
• gnomAD v4: 2-127428672-A-G
• MyVariant Identifiers: chr2:g.128186248A>G (hg19) ; chr2:g.127428672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428672A>G , CM000664.2:g.127428672A>G	GRCh38
NC_000002.11:g.128186248A>G , CM000664.1:g.128186248A>G	GRCh37
NC_000002.10:g.127902718A>G	NCBI36
NG_016323.1:g.15253A>G , LRG_599:g.15253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.1112A>G MANE Select	ENSP00000234071.4:p.Asn371Ser
ENST00000234071.7:c.1112A>G	ENSP00000234071.3:p.Asn371Ser
ENST00000402125.2:c.436A>G
ENST00000409048.1:c.1214A>G	ENSP00000386679.1:p.Asn405Ser
NM_000312.3:c.1112A>G , LRG_599t1:c.1112A>G	NP_000303.1:p.Asn371Ser
XM_005263715.3:c.1295A>G	XP_005263772.1:p.Asn432Ser
XM_005263716.3:c.1277A>G	XP_005263773.1:p.Asn426Ser
XM_005263717.3:c.1175A>G	XP_005263774.1:p.Asn392Ser
XR_923313.1:n.1332-408T>C
XM_005263717.4:c.1175A>G	XP_005263774.1:p.Asn392Ser
XM_017004505.1:c.1355A>G	XP_016859994.1:p.Asn452Ser
XM_024453002.1:c.1457A>G	XP_024308770.1:p.Asn486Ser
XM_024453003.1:c.1397A>G	XP_024308771.1:p.Asn466Ser
XM_024453004.1:c.1295A>G	XP_024308772.1:p.Asn432Ser
XM_024453005.1:c.1277A>G	XP_024308773.1:p.Asn426Ser
XM_024453006.1:c.1214A>G	XP_024308774.1:p.Asn405Ser
XR_001739705.1:n.3607-408T>C
XR_923313.2:n.4043-408T>C
NM_000312.4:c.1112A>G MANE Select	NP_000303.1:p.Asn371Ser
NM_001375602.1:c.1295A>G	NP_001362531.1:p.Asn432Ser
NM_001375603.1:c.1277A>G	NP_001362532.1:p.Asn426Ser
NM_001375604.1:c.1175A>G	NP_001362533.1:p.Asn392Ser
NM_001375605.1:c.1214A>G	NP_001362534.1:p.Asn405Ser
NM_001375606.1:c.1280A>G	NP_001362535.1:p.Asn427Ser
NM_001375607.1:c.1298A>G	NP_001362536.1:p.Asn433Ser
NM_001375608.1:c.1055A>G	NP_001362537.1:p.Asn352Ser
NM_001375609.1:c.1088A>G	NP_001362538.1:p.Asn363Ser
NM_001375610.1:c.1106A>G	NP_001362539.1:p.Asn369Ser
NM_001375611.1:c.1112A>G	NP_001362540.1:p.Asn371Ser
NM_001375613.1:c.1112A>G	NP_001362542.1:p.Asn371Ser