Canonical Allele Identifier: CA348401691

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183789G>C (hg19) ; chr2:g.127426213G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426213G>C , CM000664.2:g.127426213G>C	GRCh38
NC_000002.11:g.128183789G>C , CM000664.1:g.128183789G>C	GRCh37
NC_000002.10:g.127900259G>C	NCBI36
NG_016323.1:g.12794G>C , LRG_599:g.12794G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.664G>C MANE Select	ENSP00000234071.4:p.Asp222His
ENST00000234071.7:c.664G>C	ENSP00000234071.3:p.Asp222His
ENST00000402125.2:c.121-2144G>C
ENST00000409048.1:c.766G>C	ENSP00000386679.1:p.Asp256His
ENST00000464089.1:n.250G>C
NM_000312.3:c.664G>C , LRG_599t1:c.664G>C	NP_000303.1:p.Asp222His
XM_005263715.3:c.847G>C	XP_005263772.1:p.Asp283His
XM_005263716.3:c.829G>C	XP_005263773.1:p.Asp277His
XM_005263717.3:c.727G>C	XP_005263774.1:p.Asp243His
XM_005263717.4:c.727G>C	XP_005263774.1:p.Asp243His
XM_017004505.1:c.907G>C	XP_016859994.1:p.Asp303His
XM_024453002.1:c.1009G>C	XP_024308770.1:p.Asp337His
XM_024453003.1:c.949G>C	XP_024308771.1:p.Asp317His
XM_024453004.1:c.847G>C	XP_024308772.1:p.Asp283His
XM_024453005.1:c.829G>C	XP_024308773.1:p.Asp277His
XM_024453006.1:c.766G>C	XP_024308774.1:p.Asp256His
XR_923313.2:n.4372C>G
NM_000312.4:c.664G>C MANE Select	NP_000303.1:p.Asp222His
NM_001375602.1:c.847G>C	NP_001362531.1:p.Asp283His
NM_001375603.1:c.829G>C	NP_001362532.1:p.Asp277His
NM_001375604.1:c.727G>C	NP_001362533.1:p.Asp243His
NM_001375605.1:c.766G>C	NP_001362534.1:p.Asp256His
NM_001375606.1:c.832G>C	NP_001362535.1:p.Asp278His
NM_001375607.1:c.850G>C	NP_001362536.1:p.Asp284His
NM_001375608.1:c.607G>C	NP_001362537.1:p.Asp203His
NM_001375609.1:c.640G>C	NP_001362538.1:p.Asp214His
NM_001375610.1:c.658G>C	NP_001362539.1:p.Asp220His
NM_001375611.1:c.664G>C	NP_001362540.1:p.Asp222His
NM_001375613.1:c.664G>C	NP_001362542.1:p.Asp222His