Canonical Allele Identifier: CA348401523

Gene: PROC

Linked Data

• MyVariant Identifiers: chr2:g.128183765G>C (hg19) ; chr2:g.127426189G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426189G>C , CM000664.2:g.127426189G>C	GRCh38
NC_000002.11:g.128183765G>C , CM000664.1:g.128183765G>C	GRCh37
NC_000002.10:g.127900235G>C	NCBI36
NG_016323.1:g.12770G>C , LRG_599:g.12770G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.640G>C MANE Select	ENSP00000234071.4:p.Asp214His
ENST00000234071.7:c.640G>C	ENSP00000234071.3:p.Asp214His
ENST00000402125.2:c.121-2168G>C
ENST00000409048.1:c.742G>C	ENSP00000386679.1:p.Asp248His
ENST00000464089.1:n.226G>C
NM_000312.3:c.640G>C , LRG_599t1:c.640G>C	NP_000303.1:p.Asp214His
XM_005263715.3:c.823G>C	XP_005263772.1:p.Asp275His
XM_005263716.3:c.805G>C	XP_005263773.1:p.Asp269His
XM_005263717.3:c.703G>C	XP_005263774.1:p.Asp235His
XM_005263717.4:c.703G>C	XP_005263774.1:p.Asp235His
XM_017004505.1:c.883G>C	XP_016859994.1:p.Asp295His
XM_024453002.1:c.985G>C	XP_024308770.1:p.Asp329His
XM_024453003.1:c.925G>C	XP_024308771.1:p.Asp309His
XM_024453004.1:c.823G>C	XP_024308772.1:p.Asp275His
XM_024453005.1:c.805G>C	XP_024308773.1:p.Asp269His
XM_024453006.1:c.742G>C	XP_024308774.1:p.Asp248His
XR_923313.2:n.4396C>G
NM_000312.4:c.640G>C MANE Select	NP_000303.1:p.Asp214His
NM_001375602.1:c.823G>C	NP_001362531.1:p.Asp275His
NM_001375603.1:c.805G>C	NP_001362532.1:p.Asp269His
NM_001375604.1:c.703G>C	NP_001362533.1:p.Asp235His
NM_001375605.1:c.742G>C	NP_001362534.1:p.Asp248His
NM_001375606.1:c.808G>C	NP_001362535.1:p.Asp270His
NM_001375607.1:c.826G>C	NP_001362536.1:p.Asp276His
NM_001375608.1:c.583G>C	NP_001362537.1:p.Asp195His
NM_001375609.1:c.616G>C	NP_001362538.1:p.Asp206His
NM_001375610.1:c.634G>C	NP_001362539.1:p.Asp212His
NM_001375611.1:c.640G>C	NP_001362540.1:p.Asp214His
NM_001375613.1:c.640G>C	NP_001362542.1:p.Asp214His