Canonical Allele Identifier: CA348404281

Gene: PROC

Linked Data

• ClinVar Variation Id: 2153469
• ClinVar RCV Id: RCV003077629
• dbSNP Id: rs1302897340
• gnomAD v4: 2-127428375-G-A
• MyVariant Identifiers: chr2:g.128185951G>A (hg19) ; chr2:g.127428375G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428375G>A , CM000664.2:g.127428375G>A	GRCh38
NC_000002.11:g.128185951G>A , CM000664.1:g.128185951G>A	GRCh37
NC_000002.10:g.127902421G>A	NCBI36
NG_016323.1:g.14956G>A , LRG_599:g.14956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.815G>A MANE Select	ENSP00000234071.4:p.Arg272His
ENST00000234071.7:c.815G>A	ENSP00000234071.3:p.Arg272His
ENST00000402125.2:c.139G>A
ENST00000409048.1:c.917G>A	ENSP00000386679.1:p.Arg306His
NM_000312.3:c.815G>A , LRG_599t1:c.815G>A	NP_000303.1:p.Arg272His
XM_005263715.3:c.998G>A	XP_005263772.1:p.Arg333His
XM_005263716.3:c.980G>A	XP_005263773.1:p.Arg327His
XM_005263717.3:c.878G>A	XP_005263774.1:p.Arg293His
XR_923313.1:n.1332-111C>T
XM_005263717.4:c.878G>A	XP_005263774.1:p.Arg293His
XM_017004505.1:c.1058G>A	XP_016859994.1:p.Arg353His
XM_024453002.1:c.1160G>A	XP_024308770.1:p.Arg387His
XM_024453003.1:c.1100G>A	XP_024308771.1:p.Arg367His
XM_024453004.1:c.998G>A	XP_024308772.1:p.Arg333His
XM_024453005.1:c.980G>A	XP_024308773.1:p.Arg327His
XM_024453006.1:c.917G>A	XP_024308774.1:p.Arg306His
XR_001739705.1:n.3607-111C>T
XR_923313.2:n.4043-111C>T
NM_000312.4:c.815G>A MANE Select	NP_000303.1:p.Arg272His
NM_001375602.1:c.998G>A	NP_001362531.1:p.Arg333His
NM_001375603.1:c.980G>A	NP_001362532.1:p.Arg327His
NM_001375604.1:c.878G>A	NP_001362533.1:p.Arg293His
NM_001375605.1:c.917G>A	NP_001362534.1:p.Arg306His
NM_001375606.1:c.983G>A	NP_001362535.1:p.Arg328His
NM_001375607.1:c.1001G>A	NP_001362536.1:p.Arg334His
NM_001375608.1:c.758G>A	NP_001362537.1:p.Arg253His
NM_001375609.1:c.791G>A	NP_001362538.1:p.Arg264His
NM_001375610.1:c.809G>A	NP_001362539.1:p.Arg270His
NM_001375611.1:c.815G>A	NP_001362540.1:p.Arg272His
NM_001375613.1:c.815G>A	NP_001362542.1:p.Arg272His