Canonical Allele Identifier: CA348405214

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128186117G>C (hg19) ; chr2:g.127428541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428541G>C , CM000664.2:g.127428541G>C	GRCh38
NC_000002.11:g.128186117G>C , CM000664.1:g.128186117G>C	GRCh37
NC_000002.10:g.127902587G>C	NCBI36
NG_016323.1:g.15122G>C , LRG_599:g.15122G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.981G>C MANE Select	ENSP00000234071.4:p.Glu327Asp
ENST00000234071.7:c.981G>C	ENSP00000234071.3:p.Glu327Asp
ENST00000402125.2:c.305G>C
ENST00000409048.1:c.1083G>C	ENSP00000386679.1:p.Glu361Asp
NM_000312.3:c.981G>C , LRG_599t1:c.981G>C	NP_000303.1:p.Glu327Asp
XM_005263715.3:c.1164G>C	XP_005263772.1:p.Glu388Asp
XM_005263716.3:c.1146G>C	XP_005263773.1:p.Glu382Asp
XM_005263717.3:c.1044G>C	XP_005263774.1:p.Glu348Asp
XR_923313.1:n.1332-277C>G
XM_005263717.4:c.1044G>C	XP_005263774.1:p.Glu348Asp
XM_017004505.1:c.1224G>C	XP_016859994.1:p.Glu408Asp
XM_024453002.1:c.1326G>C	XP_024308770.1:p.Glu442Asp
XM_024453003.1:c.1266G>C	XP_024308771.1:p.Glu422Asp
XM_024453004.1:c.1164G>C	XP_024308772.1:p.Glu388Asp
XM_024453005.1:c.1146G>C	XP_024308773.1:p.Glu382Asp
XM_024453006.1:c.1083G>C	XP_024308774.1:p.Glu361Asp
XR_001739705.1:n.3607-277C>G
XR_923313.2:n.4043-277C>G
NM_000312.4:c.981G>C MANE Select	NP_000303.1:p.Glu327Asp
NM_001375602.1:c.1164G>C	NP_001362531.1:p.Glu388Asp
NM_001375603.1:c.1146G>C	NP_001362532.1:p.Glu382Asp
NM_001375604.1:c.1044G>C	NP_001362533.1:p.Glu348Asp
NM_001375605.1:c.1083G>C	NP_001362534.1:p.Glu361Asp
NM_001375606.1:c.1149G>C	NP_001362535.1:p.Glu383Asp
NM_001375607.1:c.1167G>C	NP_001362536.1:p.Glu389Asp
NM_001375608.1:c.924G>C	NP_001362537.1:p.Glu308Asp
NM_001375609.1:c.957G>C	NP_001362538.1:p.Glu319Asp
NM_001375610.1:c.975G>C	NP_001362539.1:p.Glu325Asp
NM_001375611.1:c.981G>C	NP_001362540.1:p.Glu327Asp
NM_001375613.1:c.981G>C	NP_001362542.1:p.Glu327Asp