Canonical Allele Identifier: CA11233235
Gene: PROC HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.127418299G>A
GRCh37 chr2:g.128175875G>A
gnomAD v2:
2:128175875 G / A
gnomAD v3:
2:127418299 G / A
gnomAD v4:
chr2-127418299-G-A
Joint Max Group AF 0.81669418 (EAS)
Genomes Max Group AF 0.80363981 (EAS)
Exomes Max Group AF 0.8162541 (EAS)
ClinVar RCV:
RCV001509735
ClinVar Variation:
1164170
dbSNP:
1799809
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127418299G>A , CM000664.2:g.127418299G>A GRCh38
NC_000002.11:g.128175875G>A , CM000664.1:g.128175875G>A GRCh37
NC_000002.10:g.127892345G>A NCBI36
NG_016323.1:g.4880G>A , LRG_599:g.4880G>A

Transcript Alleles

HGVS Amino-acid Change
XM_017004505.1:c.64G>A XP_016859994.1:p.Gly22Arg
XM_024453002.1:c.64G>A XP_024308770.1:p.Gly22Arg
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