Canonical Allele Identifier: CA2495267003
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1572632993
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350665C>T , CM000664.2:g.46350665C>T GRCh38
NC_000002.11:g.46577804C>T , CM000664.1:g.46577804C>T GRCh37
NC_000002.10:g.46431308C>T NCBI36
NG_016000.1:g.58264C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263734.5:c.217+3602C>T MANE Select ENSP00000263734.3:n.217+3602C>T
ENST00000263734.4:c.217+3602C>T ENSP00000263734.3:n.217+3602C>T
ENST00000449347.5:c.217+3602C>T ENSP00000406137.1:n.217+3602C>T
ENST00000475822.1:n.408+3602C>T
NM_001430.4:c.217+3602C>T NP_001421.2:n.217+3602C>T
XM_011532698.1:c.256+3602C>T XP_011531000.1:n.256+3602C>T
XM_011532698.2:c.256+3602C>T XP_011531000.1:n.256+3602C>T
NM_001430.5:c.217+3602C>T MANE Select NP_001421.2:n.217+3602C>T
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