Canonical Allele Identifier: CA348402165

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128184721C>A (hg19) ; chr2:g.127427145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127427145C>A , CM000664.2:g.127427145C>A	GRCh38
NC_000002.11:g.128184721C>A , CM000664.1:g.128184721C>A	GRCh37
NC_000002.10:g.127901191C>A	NCBI36
NG_016323.1:g.13726C>A , LRG_599:g.13726C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.719C>A MANE Select	ENSP00000234071.4:p.Ala240Glu
ENST00000234071.7:c.719C>A	ENSP00000234071.3:p.Ala240Glu
ENST00000402125.2:c.121-1212C>A
ENST00000409048.1:c.821C>A	ENSP00000386679.1:p.Ala274Glu
NM_000312.3:c.719C>A , LRG_599t1:c.719C>A	NP_000303.1:p.Ala240Glu
XM_005263715.3:c.902C>A	XP_005263772.1:p.Ala301Glu
XM_005263716.3:c.884C>A	XP_005263773.1:p.Ala295Glu
XM_005263717.3:c.782C>A	XP_005263774.1:p.Ala261Glu
XR_923313.1:n.1486-757G>T
XM_005263717.4:c.782C>A	XP_005263774.1:p.Ala261Glu
XM_017004505.1:c.962C>A	XP_016859994.1:p.Ala321Glu
XM_024453002.1:c.1064C>A	XP_024308770.1:p.Ala355Glu
XM_024453003.1:c.1004C>A	XP_024308771.1:p.Ala335Glu
XM_024453004.1:c.902C>A	XP_024308772.1:p.Ala301Glu
XM_024453005.1:c.884C>A	XP_024308773.1:p.Ala295Glu
XM_024453006.1:c.821C>A	XP_024308774.1:p.Ala274Glu
XR_923313.2:n.4197-757G>T
NM_000312.4:c.719C>A MANE Select	NP_000303.1:p.Ala240Glu
NM_001375602.1:c.902C>A	NP_001362531.1:p.Ala301Glu
NM_001375603.1:c.884C>A	NP_001362532.1:p.Ala295Glu
NM_001375604.1:c.782C>A	NP_001362533.1:p.Ala261Glu
NM_001375605.1:c.821C>A	NP_001362534.1:p.Ala274Glu
NM_001375606.1:c.887C>A	NP_001362535.1:p.Ala296Glu
NM_001375607.1:c.905C>A	NP_001362536.1:p.Ala302Glu
NM_001375608.1:c.662C>A	NP_001362537.1:p.Ala221Glu
NM_001375609.1:c.695C>A	NP_001362538.1:p.Ala232Glu
NM_001375610.1:c.713C>A	NP_001362539.1:p.Ala238Glu
NM_001375611.1:c.719C>A	NP_001362540.1:p.Ala240Glu
NM_001375613.1:c.719C>A	NP_001362542.1:p.Ala240Glu