Canonical Allele Identifier: CA348401022

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183678A>G (hg19) ; chr2:g.127426102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426102A>G , CM000664.2:g.127426102A>G	GRCh38
NC_000002.11:g.128183678A>G , CM000664.1:g.128183678A>G	GRCh37
NC_000002.10:g.127900148A>G	NCBI36
NG_016323.1:g.12683A>G , LRG_599:g.12683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.553A>G MANE Select	ENSP00000234071.4:p.Arg185Gly
ENST00000234071.7:c.553A>G	ENSP00000234071.3:p.Arg185Gly
ENST00000402125.2:c.121-2255A>G
ENST00000409048.1:c.655A>G	ENSP00000386679.1:p.Arg219Gly
ENST00000442644.5:c.496A>G	ENSP00000411241.1:p.Arg166Gly
ENST00000464089.1:n.139A>G
NM_000312.3:c.553A>G , LRG_599t1:c.553A>G	NP_000303.1:p.Arg185Gly
XM_005263715.3:c.736A>G	XP_005263772.1:p.Arg246Gly
XM_005263716.3:c.718A>G	XP_005263773.1:p.Arg240Gly
XM_005263717.3:c.616A>G	XP_005263774.1:p.Arg206Gly
XM_005263717.4:c.616A>G	XP_005263774.1:p.Arg206Gly
XM_017004505.1:c.796A>G	XP_016859994.1:p.Arg266Gly
XM_024453002.1:c.898A>G	XP_024308770.1:p.Arg300Gly
XM_024453003.1:c.838A>G	XP_024308771.1:p.Arg280Gly
XM_024453004.1:c.736A>G	XP_024308772.1:p.Arg246Gly
XM_024453005.1:c.718A>G	XP_024308773.1:p.Arg240Gly
XM_024453006.1:c.655A>G	XP_024308774.1:p.Arg219Gly
XR_923313.2:n.4483T>C
NM_000312.4:c.553A>G MANE Select	NP_000303.1:p.Arg185Gly
NM_001375602.1:c.736A>G	NP_001362531.1:p.Arg246Gly
NM_001375603.1:c.718A>G	NP_001362532.1:p.Arg240Gly
NM_001375604.1:c.616A>G	NP_001362533.1:p.Arg206Gly
NM_001375605.1:c.655A>G	NP_001362534.1:p.Arg219Gly
NM_001375606.1:c.721A>G	NP_001362535.1:p.Arg241Gly
NM_001375607.1:c.739A>G	NP_001362536.1:p.Arg247Gly
NM_001375608.1:c.496A>G	NP_001362537.1:p.Arg166Gly
NM_001375609.1:c.529A>G	NP_001362538.1:p.Arg177Gly
NM_001375610.1:c.547A>G	NP_001362539.1:p.Arg183Gly
NM_001375611.1:c.553A>G	NP_001362540.1:p.Arg185Gly
NM_001375613.1:c.553A>G	NP_001362542.1:p.Arg185Gly