Canonical Allele Identifier: CA348404248

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128185942A>C (hg19) ; chr2:g.127428366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127428366A>C , CM000664.2:g.127428366A>C	GRCh38
NC_000002.11:g.128185942A>C , CM000664.1:g.128185942A>C	GRCh37
NC_000002.10:g.127902412A>C	NCBI36
NG_016323.1:g.14947A>C , LRG_599:g.14947A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.806A>C MANE Select	ENSP00000234071.4:p.Asp269Ala
ENST00000234071.7:c.806A>C	ENSP00000234071.3:p.Asp269Ala
ENST00000402125.2:c.130A>C
ENST00000409048.1:c.908A>C	ENSP00000386679.1:p.Asp303Ala
NM_000312.3:c.806A>C , LRG_599t1:c.806A>C	NP_000303.1:p.Asp269Ala
XM_005263715.3:c.989A>C	XP_005263772.1:p.Asp330Ala
XM_005263716.3:c.971A>C	XP_005263773.1:p.Asp324Ala
XM_005263717.3:c.869A>C	XP_005263774.1:p.Asp290Ala
XR_923313.1:n.1332-102T>G
XM_005263717.4:c.869A>C	XP_005263774.1:p.Asp290Ala
XM_017004505.1:c.1049A>C	XP_016859994.1:p.Asp350Ala
XM_024453002.1:c.1151A>C	XP_024308770.1:p.Asp384Ala
XM_024453003.1:c.1091A>C	XP_024308771.1:p.Asp364Ala
XM_024453004.1:c.989A>C	XP_024308772.1:p.Asp330Ala
XM_024453005.1:c.971A>C	XP_024308773.1:p.Asp324Ala
XM_024453006.1:c.908A>C	XP_024308774.1:p.Asp303Ala
XR_001739705.1:n.3607-102T>G
XR_923313.2:n.4043-102T>G
NM_000312.4:c.806A>C MANE Select	NP_000303.1:p.Asp269Ala
NM_001375602.1:c.989A>C	NP_001362531.1:p.Asp330Ala
NM_001375603.1:c.971A>C	NP_001362532.1:p.Asp324Ala
NM_001375604.1:c.869A>C	NP_001362533.1:p.Asp290Ala
NM_001375605.1:c.908A>C	NP_001362534.1:p.Asp303Ala
NM_001375606.1:c.974A>C	NP_001362535.1:p.Asp325Ala
NM_001375607.1:c.992A>C	NP_001362536.1:p.Asp331Ala
NM_001375608.1:c.749A>C	NP_001362537.1:p.Asp250Ala
NM_001375609.1:c.782A>C	NP_001362538.1:p.Asp261Ala
NM_001375610.1:c.800A>C	NP_001362539.1:p.Asp267Ala
NM_001375611.1:c.806A>C	NP_001362540.1:p.Asp269Ala
NM_001375613.1:c.806A>C	NP_001362542.1:p.Asp269Ala