Canonical Allele Identifier: CA2495257642

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46331069T= , CM000664.2:g.46331069T=	GRCh38
NC_000002.11:g.46558208T= , CM000664.1:g.46558208T=	GRCh37
NC_000002.10:g.46411712T=	NCBI36
NG_016000.1:g.38668T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-15804T= MANE Select	ENSP00000263734.3:n.27-15804T=
ENST00000263734.4:c.27-15804T=	ENSP00000263734.3:n.27-15804T=
ENST00000449347.5:c.27-15804T=	ENSP00000406137.1:n.27-15804T=
ENST00000460015.1:n.433-15804T=
ENST00000467888.5:n.175-15804T=
NM_001430.4:c.27-15804T=	NP_001421.2:n.27-15804T=
XM_011532698.1:c.65+5193T=	XP_011531000.1:n.65+5193T=
XR_940055.1:n.2355+4715A=
XM_011532698.2:c.65+5193T=	XP_011531000.1:n.65+5193T=
NM_001430.5:c.27-15804T= MANE Select	NP_001421.2:n.27-15804T=