Canonical Allele Identifier: CA348397861

Gene: PROC

Linked Data

• dbSNP Id: rs1688080491
• gnomAD v4: 2-127421364-G-A
• MyVariant Identifiers: chr2:g.128178940G>A (hg19) ; chr2:g.127421364G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421364G>A , CM000664.2:g.127421364G>A	GRCh38
NC_000002.11:g.128178940G>A , CM000664.1:g.128178940G>A	GRCh37
NC_000002.10:g.127895410G>A	NCBI36
NG_016323.1:g.7945G>A , LRG_599:g.7945G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.152G>A MANE Select	ENSP00000234071.4:p.Arg51His
ENST00000234071.7:c.152G>A	ENSP00000234071.3:p.Arg51His
ENST00000409048.1:c.152G>A	ENSP00000386679.1:p.Arg51His
ENST00000419985.5:c.117G>A	ENSP00000392606.1:p.Pro39=
ENST00000427769.5:c.152G>A	ENSP00000406295.1:p.Arg51His
ENST00000429925.5:c.152G>A	ENSP00000412697.1:p.Arg51His
ENST00000431364.1:c.117G>A	ENSP00000391220.1:p.Pro39=
ENST00000442644.5:c.152G>A	ENSP00000411241.1:p.Arg51His
ENST00000474030.5:n.235G>A
NM_000312.3:c.152G>A , LRG_599t1:c.152G>A	NP_000303.1:p.Arg51His
XM_005263715.3:c.335G>A	XP_005263772.1:p.Arg112His
XM_005263716.3:c.215G>A	XP_005263773.1:p.Arg72His
XM_005263717.3:c.215G>A	XP_005263774.1:p.Arg72His
XM_005263717.4:c.215G>A	XP_005263774.1:p.Arg72His
XM_017004505.1:c.395G>A	XP_016859994.1:p.Arg132His
XM_024453002.1:c.395G>A	XP_024308770.1:p.Arg132His
XM_024453003.1:c.335G>A	XP_024308771.1:p.Arg112His
XM_024453004.1:c.335G>A	XP_024308772.1:p.Arg112His
XM_024453005.1:c.215G>A	XP_024308773.1:p.Arg72His
XM_024453006.1:c.152G>A	XP_024308774.1:p.Arg51His
NM_000312.4:c.152G>A MANE Select	NP_000303.1:p.Arg51His
NM_001375602.1:c.335G>A	NP_001362531.1:p.Arg112His
NM_001375603.1:c.215G>A	NP_001362532.1:p.Arg72His
NM_001375604.1:c.215G>A	NP_001362533.1:p.Arg72His
NM_001375605.1:c.152G>A	NP_001362534.1:p.Arg51His
NM_001375606.1:c.215G>A	NP_001362535.1:p.Arg72His
NM_001375607.1:c.236G>A	NP_001362536.1:p.Arg79His
NM_001375608.1:c.152G>A	NP_001362537.1:p.Arg51His
NM_001375609.1:c.128G>A	NP_001362538.1:p.Arg43His
NM_001375610.1:c.146G>A	NP_001362539.1:p.Arg49His
NM_001375611.1:c.152G>A	NP_001362540.1:p.Arg51His
NM_001375613.1:c.152G>A	NP_001362542.1:p.Arg51His