Canonical Allele Identifier: CA348401544

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183768G>C (hg19) ; chr2:g.127426192G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426192G>C , CM000664.2:g.127426192G>C	GRCh38
NC_000002.11:g.128183768G>C , CM000664.1:g.128183768G>C	GRCh37
NC_000002.10:g.127900238G>C	NCBI36
NG_016323.1:g.12773G>C , LRG_599:g.12773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.643G>C MANE Select	ENSP00000234071.4:p.Gly215Arg
ENST00000234071.7:c.643G>C	ENSP00000234071.3:p.Gly215Arg
ENST00000402125.2:c.121-2165G>C
ENST00000409048.1:c.745G>C	ENSP00000386679.1:p.Gly249Arg
ENST00000464089.1:n.229G>C
NM_000312.3:c.643G>C , LRG_599t1:c.643G>C	NP_000303.1:p.Gly215Arg
XM_005263715.3:c.826G>C	XP_005263772.1:p.Gly276Arg
XM_005263716.3:c.808G>C	XP_005263773.1:p.Gly270Arg
XM_005263717.3:c.706G>C	XP_005263774.1:p.Gly236Arg
XM_005263717.4:c.706G>C	XP_005263774.1:p.Gly236Arg
XM_017004505.1:c.886G>C	XP_016859994.1:p.Gly296Arg
XM_024453002.1:c.988G>C	XP_024308770.1:p.Gly330Arg
XM_024453003.1:c.928G>C	XP_024308771.1:p.Gly310Arg
XM_024453004.1:c.826G>C	XP_024308772.1:p.Gly276Arg
XM_024453005.1:c.808G>C	XP_024308773.1:p.Gly270Arg
XM_024453006.1:c.745G>C	XP_024308774.1:p.Gly249Arg
XR_923313.2:n.4393C>G
NM_000312.4:c.643G>C MANE Select	NP_000303.1:p.Gly215Arg
NM_001375602.1:c.826G>C	NP_001362531.1:p.Gly276Arg
NM_001375603.1:c.808G>C	NP_001362532.1:p.Gly270Arg
NM_001375604.1:c.706G>C	NP_001362533.1:p.Gly236Arg
NM_001375605.1:c.745G>C	NP_001362534.1:p.Gly249Arg
NM_001375606.1:c.811G>C	NP_001362535.1:p.Gly271Arg
NM_001375607.1:c.829G>C	NP_001362536.1:p.Gly277Arg
NM_001375608.1:c.586G>C	NP_001362537.1:p.Gly196Arg
NM_001375609.1:c.619G>C	NP_001362538.1:p.Gly207Arg
NM_001375610.1:c.637G>C	NP_001362539.1:p.Gly213Arg
NM_001375611.1:c.643G>C	NP_001362540.1:p.Gly215Arg
NM_001375613.1:c.643G>C	NP_001362542.1:p.Gly215Arg