Canonical Allele Identifier: CA1644664
Gene: EPAS1 HGNC NCBI
ClinVar RCV:
RCV003173300
ClinVar Variation:
2456328
dbSNP:
141965374
gnomAD v2:
2:46587803 G / A
gnomAD v3:
2:46360664 G / A
gnomAD v4:
chr2-46360664-G-A
Joint Max Group AF 0.00014186 (NFE)
Genomes Max Group AF 0.00011226 (NFE)
Exomes Max Group AF 0.00013971 (NFE)
MyVariant.info:
GRCh38 chr2:g.46360664G>A
GRCh37 chr2:g.46587803G>A
Revel Score:
ENST00000449347 0.182
ENST00000263734 (MANE Select) 0.182
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46360664G>A , CM000664.2:g.46360664G>A GRCh38
NC_000002.11:g.46587803G>A , CM000664.1:g.46587803G>A GRCh37
NC_000002.10:g.46441307G>A NCBI36
NG_016000.1:g.68263G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.481G>A MANE Select ENSP00000263734.3:p.Asp161Asn
ENST00000263734.4:c.481G>A ENSP00000263734.3:p.Asp161Asn
ENST00000449347.5:c.481G>A ENSP00000406137.1:p.Asp161Asn
ENST00000463191.1:n.300G>A
NM_001430.4:c.481G>A NP_001421.2:p.Asp161Asn
XM_011532698.1:c.520G>A XP_011531000.1:p.Asp174Asn
XM_011532698.2:c.520G>A XP_011531000.1:p.Asp174Asn
NM_001430.5:c.481G>A MANE Select NP_001421.2:p.Asp161Asn
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