Canonical Allele Identifier: CA348398128

Gene: PROC

Linked Data

• dbSNP Id: rs1352609136
• gnomAD v4: 2-127421414-G-A
• COSMIC: COSM3894679
• MyVariant Identifiers: chr2:g.128178990G>A (hg19) ; chr2:g.127421414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127421414G>A , CM000664.2:g.127421414G>A	GRCh38
NC_000002.11:g.128178990G>A , CM000664.1:g.128178990G>A	GRCh37
NC_000002.10:g.127895460G>A	NCBI36
NG_016323.1:g.7995G>A , LRG_599:g.7995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.202G>A MANE Select	ENSP00000234071.4:p.Glu68Lys
ENST00000234071.7:c.202G>A	ENSP00000234071.3:p.Glu68Lys
ENST00000409048.1:c.202G>A	ENSP00000386679.1:p.Glu68Lys
ENST00000419985.5:c.*8G>A	ENSP00000392606.1:n.*8G>A
ENST00000427769.5:c.202G>A	ENSP00000406295.1:p.Glu68Lys
ENST00000429925.5:c.202G>A	ENSP00000412697.1:p.Glu68Lys
ENST00000431364.1:c.*8G>A	ENSP00000391220.1:n.*8G>A
ENST00000442644.5:c.202G>A	ENSP00000411241.1:p.Glu68Lys
ENST00000474030.5:n.285G>A
NM_000312.3:c.202G>A , LRG_599t1:c.202G>A	NP_000303.1:p.Glu68Lys
XM_005263715.3:c.385G>A	XP_005263772.1:p.Glu129Lys
XM_005263716.3:c.265G>A	XP_005263773.1:p.Glu89Lys
XM_005263717.3:c.265G>A	XP_005263774.1:p.Glu89Lys
XM_005263717.4:c.265G>A	XP_005263774.1:p.Glu89Lys
XM_017004505.1:c.445G>A	XP_016859994.1:p.Glu149Lys
XM_024453002.1:c.445G>A	XP_024308770.1:p.Glu149Lys
XM_024453003.1:c.385G>A	XP_024308771.1:p.Glu129Lys
XM_024453004.1:c.385G>A	XP_024308772.1:p.Glu129Lys
XM_024453005.1:c.265G>A	XP_024308773.1:p.Glu89Lys
XM_024453006.1:c.202G>A	XP_024308774.1:p.Glu68Lys
NM_000312.4:c.202G>A MANE Select	NP_000303.1:p.Glu68Lys
NM_001375602.1:c.385G>A	NP_001362531.1:p.Glu129Lys
NM_001375603.1:c.265G>A	NP_001362532.1:p.Glu89Lys
NM_001375604.1:c.265G>A	NP_001362533.1:p.Glu89Lys
NM_001375605.1:c.202G>A	NP_001362534.1:p.Glu68Lys
NM_001375606.1:c.265G>A	NP_001362535.1:p.Glu89Lys
NM_001375607.1:c.286G>A	NP_001362536.1:p.Glu96Lys
NM_001375608.1:c.202G>A	NP_001362537.1:p.Glu68Lys
NM_001375609.1:c.178G>A	NP_001362538.1:p.Glu60Lys
NM_001375610.1:c.196G>A	NP_001362539.1:p.Glu66Lys
NM_001375611.1:c.202G>A	NP_001362540.1:p.Glu68Lys
NM_001375613.1:c.202G>A	NP_001362542.1:p.Glu68Lys