Canonical Allele Identifier: CA348404253

Gene: PROC

Linked Data

• gnomAD v4: 2-127428367-C-A
• MyVariant Identifiers: chr2:g.128185943C>A (hg19) ; chr2:g.127428367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428367C>A , CM000664.2:g.127428367C>A	GRCh38
NC_000002.11:g.128185943C>A , CM000664.1:g.128185943C>A	GRCh37
NC_000002.10:g.127902413C>A	NCBI36
NG_016323.1:g.14948C>A , LRG_599:g.14948C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.807C>A MANE Select	ENSP00000234071.4:p.Asp269Glu
ENST00000234071.7:c.807C>A	ENSP00000234071.3:p.Asp269Glu
ENST00000402125.2:c.131C>A
ENST00000409048.1:c.909C>A	ENSP00000386679.1:p.Asp303Glu
NM_000312.3:c.807C>A , LRG_599t1:c.807C>A	NP_000303.1:p.Asp269Glu
XM_005263715.3:c.990C>A	XP_005263772.1:p.Asp330Glu
XM_005263716.3:c.972C>A	XP_005263773.1:p.Asp324Glu
XM_005263717.3:c.870C>A	XP_005263774.1:p.Asp290Glu
XR_923313.1:n.1332-103G>T
XM_005263717.4:c.870C>A	XP_005263774.1:p.Asp290Glu
XM_017004505.1:c.1050C>A	XP_016859994.1:p.Asp350Glu
XM_024453002.1:c.1152C>A	XP_024308770.1:p.Asp384Glu
XM_024453003.1:c.1092C>A	XP_024308771.1:p.Asp364Glu
XM_024453004.1:c.990C>A	XP_024308772.1:p.Asp330Glu
XM_024453005.1:c.972C>A	XP_024308773.1:p.Asp324Glu
XM_024453006.1:c.909C>A	XP_024308774.1:p.Asp303Glu
XR_001739705.1:n.3607-103G>T
XR_923313.2:n.4043-103G>T
NM_000312.4:c.807C>A MANE Select	NP_000303.1:p.Asp269Glu
NM_001375602.1:c.990C>A	NP_001362531.1:p.Asp330Glu
NM_001375603.1:c.972C>A	NP_001362532.1:p.Asp324Glu
NM_001375604.1:c.870C>A	NP_001362533.1:p.Asp290Glu
NM_001375605.1:c.909C>A	NP_001362534.1:p.Asp303Glu
NM_001375606.1:c.975C>A	NP_001362535.1:p.Asp325Glu
NM_001375607.1:c.993C>A	NP_001362536.1:p.Asp331Glu
NM_001375608.1:c.750C>A	NP_001362537.1:p.Asp250Glu
NM_001375609.1:c.783C>A	NP_001362538.1:p.Asp261Glu
NM_001375610.1:c.801C>A	NP_001362539.1:p.Asp267Glu
NM_001375611.1:c.807C>A	NP_001362540.1:p.Asp269Glu
NM_001375613.1:c.807C>A	NP_001362542.1:p.Asp269Glu