Canonical Allele Identifier: CA346699016
Gene: EPAS1 HGNC NCBI
ClinVar RCV:
RCV002330758
ClinVar Variation:
1743349
dbSNP:
141965374
gnomAD v3:
2:46360664 G / C
gnomAD v4:
chr2-46360664-G-C
MyVariant.info:
GRCh38 chr2:g.46360664G>C
GRCh37 chr2:g.46587803G>C
Revel Score:
ENST00000449347 0.226
ENST00000263734 (MANE Select) 0.226
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.481G>C MANE Select ENSP00000263734.3:p.Asp161His
ENST00000263734.4:c.481G>C ENSP00000263734.3:p.Asp161His
ENST00000449347.5:c.481G>C ENSP00000406137.1:p.Asp161His
ENST00000463191.1:n.300G>C
NM_001430.4:c.481G>C NP_001421.2:p.Asp161His
XM_011532698.1:c.520G>C XP_011531000.1:p.Asp174His
XM_011532698.2:c.520G>C XP_011531000.1:p.Asp174His
NM_001430.5:c.481G>C MANE Select NP_001421.2:p.Asp161His
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