Canonical Allele Identifier: CA348401298

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183720C>G (hg19) ; chr2:g.127426144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426144C>G , CM000664.2:g.127426144C>G	GRCh38
NC_000002.11:g.128183720C>G , CM000664.1:g.128183720C>G	GRCh37
NC_000002.10:g.127900190C>G	NCBI36
NG_016323.1:g.12725C>G , LRG_599:g.12725C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.595C>G MANE Select	ENSP00000234071.4:p.Arg199Gly
ENST00000234071.7:c.595C>G	ENSP00000234071.3:p.Arg199Gly
ENST00000402125.2:c.121-2213C>G
ENST00000409048.1:c.697C>G	ENSP00000386679.1:p.Arg233Gly
ENST00000464089.1:n.181C>G
NM_000312.3:c.595C>G , LRG_599t1:c.595C>G	NP_000303.1:p.Arg199Gly
XM_005263715.3:c.778C>G	XP_005263772.1:p.Arg260Gly
XM_005263716.3:c.760C>G	XP_005263773.1:p.Arg254Gly
XM_005263717.3:c.658C>G	XP_005263774.1:p.Arg220Gly
XM_005263717.4:c.658C>G	XP_005263774.1:p.Arg220Gly
XM_017004505.1:c.838C>G	XP_016859994.1:p.Arg280Gly
XM_024453002.1:c.940C>G	XP_024308770.1:p.Arg314Gly
XM_024453003.1:c.880C>G	XP_024308771.1:p.Arg294Gly
XM_024453004.1:c.778C>G	XP_024308772.1:p.Arg260Gly
XM_024453005.1:c.760C>G	XP_024308773.1:p.Arg254Gly
XM_024453006.1:c.697C>G	XP_024308774.1:p.Arg233Gly
XR_923313.2:n.4441G>C
NM_000312.4:c.595C>G MANE Select	NP_000303.1:p.Arg199Gly
NM_001375602.1:c.778C>G	NP_001362531.1:p.Arg260Gly
NM_001375603.1:c.760C>G	NP_001362532.1:p.Arg254Gly
NM_001375604.1:c.658C>G	NP_001362533.1:p.Arg220Gly
NM_001375605.1:c.697C>G	NP_001362534.1:p.Arg233Gly
NM_001375606.1:c.763C>G	NP_001362535.1:p.Arg255Gly
NM_001375607.1:c.781C>G	NP_001362536.1:p.Arg261Gly
NM_001375608.1:c.538C>G	NP_001362537.1:p.Arg180Gly
NM_001375609.1:c.571C>G	NP_001362538.1:p.Arg191Gly
NM_001375610.1:c.589C>G	NP_001362539.1:p.Arg197Gly
NM_001375611.1:c.595C>G	NP_001362540.1:p.Arg199Gly
NM_001375613.1:c.595C>G	NP_001362542.1:p.Arg199Gly