Canonical Allele Identifier: CA348401812

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183801C>G (hg19) ; chr2:g.127426225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426225C>G , CM000664.2:g.127426225C>G	GRCh38
NC_000002.11:g.128183801C>G , CM000664.1:g.128183801C>G	GRCh37
NC_000002.10:g.127900271C>G	NCBI36
NG_016323.1:g.12806C>G , LRG_599:g.12806C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.676C>G MANE Select	ENSP00000234071.4:p.Gln226Glu
ENST00000234071.7:c.676C>G	ENSP00000234071.3:p.Gln226Glu
ENST00000402125.2:c.121-2132C>G
ENST00000409048.1:c.778C>G	ENSP00000386679.1:p.Gln260Glu
ENST00000464089.1:n.262C>G
NM_000312.3:c.676C>G , LRG_599t1:c.676C>G	NP_000303.1:p.Gln226Glu
XM_005263715.3:c.859C>G	XP_005263772.1:p.Gln287Glu
XM_005263716.3:c.841C>G	XP_005263773.1:p.Gln281Glu
XM_005263717.3:c.739C>G	XP_005263774.1:p.Gln247Glu
XM_005263717.4:c.739C>G	XP_005263774.1:p.Gln247Glu
XM_017004505.1:c.919C>G	XP_016859994.1:p.Gln307Glu
XM_024453002.1:c.1021C>G	XP_024308770.1:p.Gln341Glu
XM_024453003.1:c.961C>G	XP_024308771.1:p.Gln321Glu
XM_024453004.1:c.859C>G	XP_024308772.1:p.Gln287Glu
XM_024453005.1:c.841C>G	XP_024308773.1:p.Gln281Glu
XM_024453006.1:c.778C>G	XP_024308774.1:p.Gln260Glu
XR_923313.2:n.4360G>C
NM_000312.4:c.676C>G MANE Select	NP_000303.1:p.Gln226Glu
NM_001375602.1:c.859C>G	NP_001362531.1:p.Gln287Glu
NM_001375603.1:c.841C>G	NP_001362532.1:p.Gln281Glu
NM_001375604.1:c.739C>G	NP_001362533.1:p.Gln247Glu
NM_001375605.1:c.778C>G	NP_001362534.1:p.Gln260Glu
NM_001375606.1:c.844C>G	NP_001362535.1:p.Gln282Glu
NM_001375607.1:c.862C>G	NP_001362536.1:p.Gln288Glu
NM_001375608.1:c.619C>G	NP_001362537.1:p.Gln207Glu
NM_001375609.1:c.652C>G	NP_001362538.1:p.Gln218Glu
NM_001375610.1:c.670C>G	NP_001362539.1:p.Gln224Glu
NM_001375611.1:c.676C>G	NP_001362540.1:p.Gln226Glu
NM_001375613.1:c.676C>G	NP_001362542.1:p.Gln226Glu