Canonical Allele Identifier: CA2495267000
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1684129473
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350661G>A , CM000664.2:g.46350661G>A GRCh38
NC_000002.11:g.46577800G>A , CM000664.1:g.46577800G>A GRCh37
NC_000002.10:g.46431304G>A NCBI36
NG_016000.1:g.58260G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3598G>A MANE Select ENSP00000263734.3:n.217+3598G>A
ENST00000263734.4:c.217+3598G>A ENSP00000263734.3:n.217+3598G>A
ENST00000449347.5:c.217+3598G>A ENSP00000406137.1:n.217+3598G>A
ENST00000475822.1:n.408+3598G>A
NM_001430.4:c.217+3598G>A NP_001421.2:n.217+3598G>A
XM_011532698.1:c.256+3598G>A XP_011531000.1:n.256+3598G>A
XM_011532698.2:c.256+3598G>A XP_011531000.1:n.256+3598G>A
NM_001430.5:c.217+3598G>A MANE Select NP_001421.2:n.217+3598G>A
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