Canonical Allele Identifier: CA348404226

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185938T>A (hg19) ; chr2:g.127428362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428362T>A , CM000664.2:g.127428362T>A	GRCh38
NC_000002.11:g.128185938T>A , CM000664.1:g.128185938T>A	GRCh37
NC_000002.10:g.127902408T>A	NCBI36
NG_016323.1:g.14943T>A , LRG_599:g.14943T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.802T>A MANE Select	ENSP00000234071.4:p.Tyr268Asn
ENST00000234071.7:c.802T>A	ENSP00000234071.3:p.Tyr268Asn
ENST00000402125.2:c.126T>A
ENST00000409048.1:c.904T>A	ENSP00000386679.1:p.Tyr302Asn
NM_000312.3:c.802T>A , LRG_599t1:c.802T>A	NP_000303.1:p.Tyr268Asn
XM_005263715.3:c.985T>A	XP_005263772.1:p.Tyr329Asn
XM_005263716.3:c.967T>A	XP_005263773.1:p.Tyr323Asn
XM_005263717.3:c.865T>A	XP_005263774.1:p.Tyr289Asn
XR_923313.1:n.1332-98A>T
XM_005263717.4:c.865T>A	XP_005263774.1:p.Tyr289Asn
XM_017004505.1:c.1045T>A	XP_016859994.1:p.Tyr349Asn
XM_024453002.1:c.1147T>A	XP_024308770.1:p.Tyr383Asn
XM_024453003.1:c.1087T>A	XP_024308771.1:p.Tyr363Asn
XM_024453004.1:c.985T>A	XP_024308772.1:p.Tyr329Asn
XM_024453005.1:c.967T>A	XP_024308773.1:p.Tyr323Asn
XM_024453006.1:c.904T>A	XP_024308774.1:p.Tyr302Asn
XR_001739705.1:n.3607-98A>T
XR_923313.2:n.4043-98A>T
NM_000312.4:c.802T>A MANE Select	NP_000303.1:p.Tyr268Asn
NM_001375602.1:c.985T>A	NP_001362531.1:p.Tyr329Asn
NM_001375603.1:c.967T>A	NP_001362532.1:p.Tyr323Asn
NM_001375604.1:c.865T>A	NP_001362533.1:p.Tyr289Asn
NM_001375605.1:c.904T>A	NP_001362534.1:p.Tyr302Asn
NM_001375606.1:c.970T>A	NP_001362535.1:p.Tyr324Asn
NM_001375607.1:c.988T>A	NP_001362536.1:p.Tyr330Asn
NM_001375608.1:c.745T>A	NP_001362537.1:p.Tyr249Asn
NM_001375609.1:c.778T>A	NP_001362538.1:p.Tyr260Asn
NM_001375610.1:c.796T>A	NP_001362539.1:p.Tyr266Asn
NM_001375611.1:c.802T>A	NP_001362540.1:p.Tyr268Asn
NM_001375613.1:c.802T>A	NP_001362542.1:p.Tyr268Asn