Canonical Allele Identifier: CA348401471

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183750G>C (hg19) ; chr2:g.127426174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426174G>C , CM000664.2:g.127426174G>C	GRCh38
NC_000002.11:g.128183750G>C , CM000664.1:g.128183750G>C	GRCh37
NC_000002.10:g.127900220G>C	NCBI36
NG_016323.1:g.12755G>C , LRG_599:g.12755G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.625G>C MANE Select	ENSP00000234071.4:p.Asp209His
ENST00000234071.7:c.625G>C	ENSP00000234071.3:p.Asp209His
ENST00000402125.2:c.121-2183G>C
ENST00000409048.1:c.727G>C	ENSP00000386679.1:p.Asp243His
ENST00000464089.1:n.211G>C
NM_000312.3:c.625G>C , LRG_599t1:c.625G>C	NP_000303.1:p.Asp209His
XM_005263715.3:c.808G>C	XP_005263772.1:p.Asp270His
XM_005263716.3:c.790G>C	XP_005263773.1:p.Asp264His
XM_005263717.3:c.688G>C	XP_005263774.1:p.Asp230His
XM_005263717.4:c.688G>C	XP_005263774.1:p.Asp230His
XM_017004505.1:c.868G>C	XP_016859994.1:p.Asp290His
XM_024453002.1:c.970G>C	XP_024308770.1:p.Asp324His
XM_024453003.1:c.910G>C	XP_024308771.1:p.Asp304His
XM_024453004.1:c.808G>C	XP_024308772.1:p.Asp270His
XM_024453005.1:c.790G>C	XP_024308773.1:p.Asp264His
XM_024453006.1:c.727G>C	XP_024308774.1:p.Asp243His
XR_923313.2:n.4411C>G
NM_000312.4:c.625G>C MANE Select	NP_000303.1:p.Asp209His
NM_001375602.1:c.808G>C	NP_001362531.1:p.Asp270His
NM_001375603.1:c.790G>C	NP_001362532.1:p.Asp264His
NM_001375604.1:c.688G>C	NP_001362533.1:p.Asp230His
NM_001375605.1:c.727G>C	NP_001362534.1:p.Asp243His
NM_001375606.1:c.793G>C	NP_001362535.1:p.Asp265His
NM_001375607.1:c.811G>C	NP_001362536.1:p.Asp271His
NM_001375608.1:c.568G>C	NP_001362537.1:p.Asp190His
NM_001375609.1:c.601G>C	NP_001362538.1:p.Asp201His
NM_001375610.1:c.619G>C	NP_001362539.1:p.Asp207His
NM_001375611.1:c.625G>C	NP_001362540.1:p.Asp209His
NM_001375613.1:c.625G>C	NP_001362542.1:p.Asp209His