Canonical Allele Identifier: CA348404218

Gene: PROC

Linked Data

• ClinVar Variation Id: 469125
• ClinVar RCV Id: RCV000540892
• dbSNP Id: rs1553425185
• MyVariant Identifiers: chr2:g.128185935G>A (hg19) ; chr2:g.127428359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428359G>A , CM000664.2:g.127428359G>A	GRCh38
NC_000002.11:g.128185935G>A , CM000664.1:g.128185935G>A	GRCh37
NC_000002.10:g.127902405G>A	NCBI36
NG_016323.1:g.14940G>A , LRG_599:g.14940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.799G>A MANE Select	ENSP00000234071.4:p.Glu267Lys
ENST00000234071.7:c.799G>A	ENSP00000234071.3:p.Glu267Lys
ENST00000402125.2:c.123G>A
ENST00000409048.1:c.901G>A	ENSP00000386679.1:p.Glu301Lys
NM_000312.3:c.799G>A , LRG_599t1:c.799G>A	NP_000303.1:p.Glu267Lys
XM_005263715.3:c.982G>A	XP_005263772.1:p.Glu328Lys
XM_005263716.3:c.964G>A	XP_005263773.1:p.Glu322Lys
XM_005263717.3:c.862G>A	XP_005263774.1:p.Glu288Lys
XR_923313.1:n.1332-95C>T
XM_005263717.4:c.862G>A	XP_005263774.1:p.Glu288Lys
XM_017004505.1:c.1042G>A	XP_016859994.1:p.Glu348Lys
XM_024453002.1:c.1144G>A	XP_024308770.1:p.Glu382Lys
XM_024453003.1:c.1084G>A	XP_024308771.1:p.Glu362Lys
XM_024453004.1:c.982G>A	XP_024308772.1:p.Glu328Lys
XM_024453005.1:c.964G>A	XP_024308773.1:p.Glu322Lys
XM_024453006.1:c.901G>A	XP_024308774.1:p.Glu301Lys
XR_001739705.1:n.3607-95C>T
XR_923313.2:n.4043-95C>T
NM_000312.4:c.799G>A MANE Select	NP_000303.1:p.Glu267Lys
NM_001375602.1:c.982G>A	NP_001362531.1:p.Glu328Lys
NM_001375603.1:c.964G>A	NP_001362532.1:p.Glu322Lys
NM_001375604.1:c.862G>A	NP_001362533.1:p.Glu288Lys
NM_001375605.1:c.901G>A	NP_001362534.1:p.Glu301Lys
NM_001375606.1:c.967G>A	NP_001362535.1:p.Glu323Lys
NM_001375607.1:c.985G>A	NP_001362536.1:p.Glu329Lys
NM_001375608.1:c.742G>A	NP_001362537.1:p.Glu248Lys
NM_001375609.1:c.775G>A	NP_001362538.1:p.Glu259Lys
NM_001375610.1:c.793G>A	NP_001362539.1:p.Glu265Lys
NM_001375611.1:c.799G>A	NP_001362540.1:p.Glu267Lys
NM_001375613.1:c.799G>A	NP_001362542.1:p.Glu267Lys