Canonical Allele Identifier: CA348401668

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183786G>C (hg19) ; chr2:g.127426210G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426210G>C , CM000664.2:g.127426210G>C	GRCh38
NC_000002.11:g.128183786G>C , CM000664.1:g.128183786G>C	GRCh37
NC_000002.10:g.127900256G>C	NCBI36
NG_016323.1:g.12791G>C , LRG_599:g.12791G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.661G>C MANE Select	ENSP00000234071.4:p.Gly221Arg
ENST00000234071.7:c.661G>C	ENSP00000234071.3:p.Gly221Arg
ENST00000402125.2:c.121-2147G>C
ENST00000409048.1:c.763G>C	ENSP00000386679.1:p.Gly255Arg
ENST00000464089.1:n.247G>C
NM_000312.3:c.661G>C , LRG_599t1:c.661G>C	NP_000303.1:p.Gly221Arg
XM_005263715.3:c.844G>C	XP_005263772.1:p.Gly282Arg
XM_005263716.3:c.826G>C	XP_005263773.1:p.Gly276Arg
XM_005263717.3:c.724G>C	XP_005263774.1:p.Gly242Arg
XM_005263717.4:c.724G>C	XP_005263774.1:p.Gly242Arg
XM_017004505.1:c.904G>C	XP_016859994.1:p.Gly302Arg
XM_024453002.1:c.1006G>C	XP_024308770.1:p.Gly336Arg
XM_024453003.1:c.946G>C	XP_024308771.1:p.Gly316Arg
XM_024453004.1:c.844G>C	XP_024308772.1:p.Gly282Arg
XM_024453005.1:c.826G>C	XP_024308773.1:p.Gly276Arg
XM_024453006.1:c.763G>C	XP_024308774.1:p.Gly255Arg
XR_923313.2:n.4375C>G
NM_000312.4:c.661G>C MANE Select	NP_000303.1:p.Gly221Arg
NM_001375602.1:c.844G>C	NP_001362531.1:p.Gly282Arg
NM_001375603.1:c.826G>C	NP_001362532.1:p.Gly276Arg
NM_001375604.1:c.724G>C	NP_001362533.1:p.Gly242Arg
NM_001375605.1:c.763G>C	NP_001362534.1:p.Gly255Arg
NM_001375606.1:c.829G>C	NP_001362535.1:p.Gly277Arg
NM_001375607.1:c.847G>C	NP_001362536.1:p.Gly283Arg
NM_001375608.1:c.604G>C	NP_001362537.1:p.Gly202Arg
NM_001375609.1:c.637G>C	NP_001362538.1:p.Gly213Arg
NM_001375610.1:c.655G>C	NP_001362539.1:p.Gly219Arg
NM_001375611.1:c.661G>C	NP_001362540.1:p.Gly221Arg
NM_001375613.1:c.661G>C	NP_001362542.1:p.Gly221Arg