Canonical Allele Identifier: CA2495266829
Gene: EPAS1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46350288C= , CM000664.2:g.46350288C= GRCh38
NC_000002.11:g.46577427C= , CM000664.1:g.46577427C= GRCh37
NC_000002.10:g.46430931C= NCBI36
NG_016000.1:g.57887C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.217+3225C= MANE Select ENSP00000263734.3:n.217+3225C=
ENST00000263734.4:c.217+3225C= ENSP00000263734.3:n.217+3225C=
ENST00000449347.5:c.217+3225C= ENSP00000406137.1:n.217+3225C=
ENST00000475822.1:n.408+3225C=
NM_001430.4:c.217+3225C= NP_001421.2:n.217+3225C=
XM_011532698.1:c.256+3225C= XP_011531000.1:n.256+3225C=
XM_011532698.2:c.256+3225C= XP_011531000.1:n.256+3225C=
NM_001430.5:c.217+3225C= MANE Select NP_001421.2:n.217+3225C=
Search 100 bp 5'
Search 100 bp 3'