Canonical Allele Identifier: CA1859391

Gene: PROC

Linked Data

• dbSNP Id: rs746989553
• ExAC: 2:128183706 G / A
• gnomAD v2: 2-128183706-G-A
• gnomAD v3: 2-127426130-G-A
• gnomAD v4: 2-127426130-G-A
• COSMIC: COSM3042313 ; COSM4303053
• MyVariant Identifiers: chr2:g.128183706G>A (hg19) ; chr2:g.127426130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127426130G>A , CM000664.2:g.127426130G>A	GRCh38
NC_000002.11:g.128183706G>A , CM000664.1:g.128183706G>A	GRCh37
NC_000002.10:g.127900176G>A	NCBI36
NG_016323.1:g.12711G>A , LRG_599:g.12711G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000234071.8:c.581G>A MANE Select	ENSP00000234071.4:p.Arg194His
ENST00000234071.7:c.581G>A	ENSP00000234071.3:p.Arg194His
ENST00000402125.2:c.121-2227G>A
ENST00000409048.1:c.683G>A	ENSP00000386679.1:p.Arg228His
ENST00000442644.5:c.524G>A	ENSP00000411241.1:p.Arg175His
ENST00000464089.1:n.167G>A
NM_000312.3:c.581G>A , LRG_599t1:c.581G>A	NP_000303.1:p.Arg194His
XM_005263715.3:c.764G>A	XP_005263772.1:p.Arg255His
XM_005263716.3:c.746G>A	XP_005263773.1:p.Arg249His
XM_005263717.3:c.644G>A	XP_005263774.1:p.Arg215His
XM_005263717.4:c.644G>A	XP_005263774.1:p.Arg215His
XM_017004505.1:c.824G>A	XP_016859994.1:p.Arg275His
XM_024453002.1:c.926G>A	XP_024308770.1:p.Arg309His
XM_024453003.1:c.866G>A	XP_024308771.1:p.Arg289His
XM_024453004.1:c.764G>A	XP_024308772.1:p.Arg255His
XM_024453005.1:c.746G>A	XP_024308773.1:p.Arg249His
XM_024453006.1:c.683G>A	XP_024308774.1:p.Arg228His
XR_923313.2:n.4455C>T
NM_000312.4:c.581G>A MANE Select	NP_000303.1:p.Arg194His
NM_001375602.1:c.764G>A	NP_001362531.1:p.Arg255His
NM_001375603.1:c.746G>A	NP_001362532.1:p.Arg249His
NM_001375604.1:c.644G>A	NP_001362533.1:p.Arg215His
NM_001375605.1:c.683G>A	NP_001362534.1:p.Arg228His
NM_001375606.1:c.749G>A	NP_001362535.1:p.Arg250His
NM_001375607.1:c.767G>A	NP_001362536.1:p.Arg256His
NM_001375608.1:c.524G>A	NP_001362537.1:p.Arg175His
NM_001375609.1:c.557G>A	NP_001362538.1:p.Arg186His
NM_001375610.1:c.575G>A	NP_001362539.1:p.Arg192His
NM_001375611.1:c.581G>A	NP_001362540.1:p.Arg194His
NM_001375613.1:c.581G>A	NP_001362542.1:p.Arg194His