Canonical Allele Identifier: CA348404324

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185960A>G (hg19) ; chr2:g.127428384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428384A>G , CM000664.2:g.127428384A>G	GRCh38
NC_000002.11:g.128185960A>G , CM000664.1:g.128185960A>G	GRCh37
NC_000002.10:g.127902430A>G	NCBI36
NG_016323.1:g.14965A>G , LRG_599:g.14965A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.824A>G MANE Select	ENSP00000234071.4:p.Lys275Arg
ENST00000234071.7:c.824A>G	ENSP00000234071.3:p.Lys275Arg
ENST00000402125.2:c.148A>G
ENST00000409048.1:c.926A>G	ENSP00000386679.1:p.Lys309Arg
NM_000312.3:c.824A>G , LRG_599t1:c.824A>G	NP_000303.1:p.Lys275Arg
XM_005263715.3:c.1007A>G	XP_005263772.1:p.Lys336Arg
XM_005263716.3:c.989A>G	XP_005263773.1:p.Lys330Arg
XM_005263717.3:c.887A>G	XP_005263774.1:p.Lys296Arg
XR_923313.1:n.1332-120T>C
XM_005263717.4:c.887A>G	XP_005263774.1:p.Lys296Arg
XM_017004505.1:c.1067A>G	XP_016859994.1:p.Lys356Arg
XM_024453002.1:c.1169A>G	XP_024308770.1:p.Lys390Arg
XM_024453003.1:c.1109A>G	XP_024308771.1:p.Lys370Arg
XM_024453004.1:c.1007A>G	XP_024308772.1:p.Lys336Arg
XM_024453005.1:c.989A>G	XP_024308773.1:p.Lys330Arg
XM_024453006.1:c.926A>G	XP_024308774.1:p.Lys309Arg
XR_001739705.1:n.3607-120T>C
XR_923313.2:n.4043-120T>C
NM_000312.4:c.824A>G MANE Select	NP_000303.1:p.Lys275Arg
NM_001375602.1:c.1007A>G	NP_001362531.1:p.Lys336Arg
NM_001375603.1:c.989A>G	NP_001362532.1:p.Lys330Arg
NM_001375604.1:c.887A>G	NP_001362533.1:p.Lys296Arg
NM_001375605.1:c.926A>G	NP_001362534.1:p.Lys309Arg
NM_001375606.1:c.992A>G	NP_001362535.1:p.Lys331Arg
NM_001375607.1:c.1010A>G	NP_001362536.1:p.Lys337Arg
NM_001375608.1:c.767A>G	NP_001362537.1:p.Lys256Arg
NM_001375609.1:c.800A>G	NP_001362538.1:p.Lys267Arg
NM_001375610.1:c.818A>G	NP_001362539.1:p.Lys273Arg
NM_001375611.1:c.824A>G	NP_001362540.1:p.Lys275Arg
NM_001375613.1:c.824A>G	NP_001362542.1:p.Lys275Arg