Canonical Allele Identifier: CA211730

Gene: PROC

Linked Data

• ClinVar Variation Id: 161341
• ClinVar RCV Id: RCV000148747 ; RCV002243820 ; RCV002478414
• dbSNP Id: rs374476971
• ExAC: 2:128180687 G / C
• gnomAD v2: 2-128180687-G-C
• gnomAD v3: 2-127423111-G-C
• gnomAD v4: 2-127423111-G-C
• MyVariant Identifiers: chr2:g.128180687G>C (hg19) ; chr2:g.127423111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127423111G>C , CM000664.2:g.127423111G>C	GRCh38
NC_000002.11:g.128180687G>C , CM000664.1:g.128180687G>C	GRCh37
NC_000002.10:g.127897157G>C	NCBI36
NG_016323.1:g.9692G>C , LRG_599:g.9692G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234071.8:c.340G>C MANE Select	ENSP00000234071.4:p.Gly114Arg
ENST00000234071.7:c.340G>C	ENSP00000234071.3:p.Gly114Arg
ENST00000409048.1:c.340G>C	ENSP00000386679.1:p.Gly114Arg
ENST00000419985.5:c.*146G>C	ENSP00000392606.1:n.*146G>C
ENST00000427769.5:c.340G>C	ENSP00000406295.1:p.Gly114Arg
ENST00000429925.5:c.340G>C	ENSP00000412697.1:p.Gly114Arg
ENST00000431364.1:c.*146G>C	ENSP00000391220.1:n.*146G>C
ENST00000442644.5:c.340G>C	ENSP00000411241.1:p.Gly114Arg
NM_000312.3:c.340G>C , LRG_599t1:c.340G>C	NP_000303.1:p.Gly114Arg
XM_005263715.3:c.523G>C	XP_005263772.1:p.Gly175Arg
XM_005263716.3:c.403G>C	XP_005263773.1:p.Gly135Arg
XM_005263717.3:c.403G>C	XP_005263774.1:p.Gly135Arg
XM_005263717.4:c.403G>C	XP_005263774.1:p.Gly135Arg
XM_017004505.1:c.583G>C	XP_016859994.1:p.Gly195Arg
XM_024453002.1:c.583G>C	XP_024308770.1:p.Gly195Arg
XM_024453003.1:c.523G>C	XP_024308771.1:p.Gly175Arg
XM_024453004.1:c.523G>C	XP_024308772.1:p.Gly175Arg
XM_024453005.1:c.403G>C	XP_024308773.1:p.Gly135Arg
XM_024453006.1:c.340G>C	XP_024308774.1:p.Gly114Arg
NM_000312.4:c.340G>C MANE Select	NP_000303.1:p.Gly114Arg
NM_001375602.1:c.523G>C	NP_001362531.1:p.Gly175Arg
NM_001375603.1:c.403G>C	NP_001362532.1:p.Gly135Arg
NM_001375604.1:c.403G>C	NP_001362533.1:p.Gly135Arg
NM_001375605.1:c.340G>C	NP_001362534.1:p.Gly114Arg
NM_001375606.1:c.495G>C	NP_001362535.1:p.Thr165=
NM_001375607.1:c.424G>C	NP_001362536.1:p.Gly142Arg
NM_001375608.1:c.340G>C	NP_001362537.1:p.Gly114Arg
NM_001375609.1:c.316G>C	NP_001362538.1:p.Gly106Arg
NM_001375610.1:c.334G>C	NP_001362539.1:p.Gly112Arg
NM_001375611.1:c.340G>C	NP_001362540.1:p.Gly114Arg
NM_001375613.1:c.340G>C	NP_001362542.1:p.Gly114Arg