Canonical Allele Identifier: CA348404320

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185959A>G (hg19) ; chr2:g.127428383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428383A>G , CM000664.2:g.127428383A>G	GRCh38
NC_000002.11:g.128185959A>G , CM000664.1:g.128185959A>G	GRCh37
NC_000002.10:g.127902429A>G	NCBI36
NG_016323.1:g.14964A>G , LRG_599:g.14964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.823A>G MANE Select	ENSP00000234071.4:p.Lys275Glu
ENST00000234071.7:c.823A>G	ENSP00000234071.3:p.Lys275Glu
ENST00000402125.2:c.147A>G
ENST00000409048.1:c.925A>G	ENSP00000386679.1:p.Lys309Glu
NM_000312.3:c.823A>G , LRG_599t1:c.823A>G	NP_000303.1:p.Lys275Glu
XM_005263715.3:c.1006A>G	XP_005263772.1:p.Lys336Glu
XM_005263716.3:c.988A>G	XP_005263773.1:p.Lys330Glu
XM_005263717.3:c.886A>G	XP_005263774.1:p.Lys296Glu
XR_923313.1:n.1332-119T>C
XM_005263717.4:c.886A>G	XP_005263774.1:p.Lys296Glu
XM_017004505.1:c.1066A>G	XP_016859994.1:p.Lys356Glu
XM_024453002.1:c.1168A>G	XP_024308770.1:p.Lys390Glu
XM_024453003.1:c.1108A>G	XP_024308771.1:p.Lys370Glu
XM_024453004.1:c.1006A>G	XP_024308772.1:p.Lys336Glu
XM_024453005.1:c.988A>G	XP_024308773.1:p.Lys330Glu
XM_024453006.1:c.925A>G	XP_024308774.1:p.Lys309Glu
XR_001739705.1:n.3607-119T>C
XR_923313.2:n.4043-119T>C
NM_000312.4:c.823A>G MANE Select	NP_000303.1:p.Lys275Glu
NM_001375602.1:c.1006A>G	NP_001362531.1:p.Lys336Glu
NM_001375603.1:c.988A>G	NP_001362532.1:p.Lys330Glu
NM_001375604.1:c.886A>G	NP_001362533.1:p.Lys296Glu
NM_001375605.1:c.925A>G	NP_001362534.1:p.Lys309Glu
NM_001375606.1:c.991A>G	NP_001362535.1:p.Lys331Glu
NM_001375607.1:c.1009A>G	NP_001362536.1:p.Lys337Glu
NM_001375608.1:c.766A>G	NP_001362537.1:p.Lys256Glu
NM_001375609.1:c.799A>G	NP_001362538.1:p.Lys267Glu
NM_001375610.1:c.817A>G	NP_001362539.1:p.Lys273Glu
NM_001375611.1:c.823A>G	NP_001362540.1:p.Lys275Glu
NM_001375613.1:c.823A>G	NP_001362542.1:p.Lys275Glu