Canonical Allele Identifier: CA1859401

Gene: PROC

Linked Data

• dbSNP Id: rs121918143
• ExAC: 2:128183756 C / A
• gnomAD v2: 2-128183756-C-A
• gnomAD v4: 2-127426180-C-A
• MyVariant Identifiers: chr2:g.128183756C>A (hg19) ; chr2:g.127426180C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426180C>A , CM000664.2:g.127426180C>A	GRCh38
NC_000002.11:g.128183756C>A , CM000664.1:g.128183756C>A	GRCh37
NC_000002.10:g.127900226C>A	NCBI36
NG_016323.1:g.12761C>A , LRG_599:g.12761C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.631C>A MANE Select	ENSP00000234071.4:p.Arg211=
ENST00000234071.7:c.631C>A	ENSP00000234071.3:p.Arg211=
ENST00000402125.2:c.121-2177C>A
ENST00000409048.1:c.733C>A	ENSP00000386679.1:p.Arg245=
ENST00000464089.1:n.217C>A
NM_000312.3:c.631C>A , LRG_599t1:c.631C>A	NP_000303.1:p.Arg211=
XM_005263715.3:c.814C>A	XP_005263772.1:p.Arg272=
XM_005263716.3:c.796C>A	XP_005263773.1:p.Arg266=
XM_005263717.3:c.694C>A	XP_005263774.1:p.Arg232=
XM_005263717.4:c.694C>A	XP_005263774.1:p.Arg232=
XM_017004505.1:c.874C>A	XP_016859994.1:p.Arg292=
XM_024453002.1:c.976C>A	XP_024308770.1:p.Arg326=
XM_024453003.1:c.916C>A	XP_024308771.1:p.Arg306=
XM_024453004.1:c.814C>A	XP_024308772.1:p.Arg272=
XM_024453005.1:c.796C>A	XP_024308773.1:p.Arg266=
XM_024453006.1:c.733C>A	XP_024308774.1:p.Arg245=
XR_923313.2:n.4405G>T
NM_000312.4:c.631C>A MANE Select	NP_000303.1:p.Arg211=
NM_001375602.1:c.814C>A	NP_001362531.1:p.Arg272=
NM_001375603.1:c.796C>A	NP_001362532.1:p.Arg266=
NM_001375604.1:c.694C>A	NP_001362533.1:p.Arg232=
NM_001375605.1:c.733C>A	NP_001362534.1:p.Arg245=
NM_001375606.1:c.799C>A	NP_001362535.1:p.Arg267=
NM_001375607.1:c.817C>A	NP_001362536.1:p.Arg273=
NM_001375608.1:c.574C>A	NP_001362537.1:p.Arg192=
NM_001375609.1:c.607C>A	NP_001362538.1:p.Arg203=
NM_001375610.1:c.625C>A	NP_001362539.1:p.Arg209=
NM_001375611.1:c.631C>A	NP_001362540.1:p.Arg211=
NM_001375613.1:c.631C>A	NP_001362542.1:p.Arg211=