Canonical Allele Identifier: CA348401467

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183748T>A (hg19) ; chr2:g.127426172T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426172T>A , CM000664.2:g.127426172T>A	GRCh38
NC_000002.11:g.128183748T>A , CM000664.1:g.128183748T>A	GRCh37
NC_000002.10:g.127900218T>A	NCBI36
NG_016323.1:g.12753T>A , LRG_599:g.12753T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.623T>A MANE Select	ENSP00000234071.4:p.Val208Glu
ENST00000234071.7:c.623T>A	ENSP00000234071.3:p.Val208Glu
ENST00000402125.2:c.121-2185T>A
ENST00000409048.1:c.725T>A	ENSP00000386679.1:p.Val242Glu
ENST00000464089.1:n.209T>A
NM_000312.3:c.623T>A , LRG_599t1:c.623T>A	NP_000303.1:p.Val208Glu
XM_005263715.3:c.806T>A	XP_005263772.1:p.Val269Glu
XM_005263716.3:c.788T>A	XP_005263773.1:p.Val263Glu
XM_005263717.3:c.686T>A	XP_005263774.1:p.Val229Glu
XM_005263717.4:c.686T>A	XP_005263774.1:p.Val229Glu
XM_017004505.1:c.866T>A	XP_016859994.1:p.Val289Glu
XM_024453002.1:c.968T>A	XP_024308770.1:p.Val323Glu
XM_024453003.1:c.908T>A	XP_024308771.1:p.Val303Glu
XM_024453004.1:c.806T>A	XP_024308772.1:p.Val269Glu
XM_024453005.1:c.788T>A	XP_024308773.1:p.Val263Glu
XM_024453006.1:c.725T>A	XP_024308774.1:p.Val242Glu
XR_923313.2:n.4413A>T
NM_000312.4:c.623T>A MANE Select	NP_000303.1:p.Val208Glu
NM_001375602.1:c.806T>A	NP_001362531.1:p.Val269Glu
NM_001375603.1:c.788T>A	NP_001362532.1:p.Val263Glu
NM_001375604.1:c.686T>A	NP_001362533.1:p.Val229Glu
NM_001375605.1:c.725T>A	NP_001362534.1:p.Val242Glu
NM_001375606.1:c.791T>A	NP_001362535.1:p.Val264Glu
NM_001375607.1:c.809T>A	NP_001362536.1:p.Val270Glu
NM_001375608.1:c.566T>A	NP_001362537.1:p.Val189Glu
NM_001375609.1:c.599T>A	NP_001362538.1:p.Val200Glu
NM_001375610.1:c.617T>A	NP_001362539.1:p.Val206Glu
NM_001375611.1:c.623T>A	NP_001362540.1:p.Val208Glu
NM_001375613.1:c.623T>A	NP_001362542.1:p.Val208Glu