Canonical Allele Identifier: CA11185014
Gene: EPAS1 HGNC NCBI
dbSNP:
10187368
gnomAD v2:
2:46577644 G / A
gnomAD v3:
2:46350505 G / A
gnomAD v4:
chr2-46350505-G-A
Joint Max Group AF 0.26280876 (AMR)
Genomes Max Group AF 0.26280876 (AMR)
MyVariant.info:
GRCh38 chr2:g.46350505G>A
GRCh37 chr2:g.46577644G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350505G>A , CM000664.2:g.46350505G>A GRCh38
NC_000002.11:g.46577644G>A , CM000664.1:g.46577644G>A GRCh37
NC_000002.10:g.46431148G>A NCBI36
NG_016000.1:g.58104G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3442G>A MANE Select ENSP00000263734.3:n.217+3442G>A
ENST00000263734.4:c.217+3442G>A ENSP00000263734.3:n.217+3442G>A
ENST00000449347.5:c.217+3442G>A ENSP00000406137.1:n.217+3442G>A
ENST00000475822.1:n.408+3442G>A
NM_001430.4:c.217+3442G>A NP_001421.2:n.217+3442G>A
XM_011532698.1:c.256+3442G>A XP_011531000.1:n.256+3442G>A
XM_011532698.2:c.256+3442G>A XP_011531000.1:n.256+3442G>A
NM_001430.5:c.217+3442G>A MANE Select NP_001421.2:n.217+3442G>A
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