Canonical Allele Identifier: CA2495257394

Gene: EPAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46330488C= , CM000664.2:g.46330488C=	GRCh38
NC_000002.11:g.46557627C= , CM000664.1:g.46557627C=	GRCh37
NC_000002.10:g.46411131C=	NCBI36
NG_016000.1:g.38087C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-16385C= MANE Select	ENSP00000263734.3:n.27-16385C=
ENST00000263734.4:c.27-16385C=	ENSP00000263734.3:n.27-16385C=
ENST00000449347.5:c.27-16385C=	ENSP00000406137.1:n.27-16385C=
ENST00000460015.1:n.433-16385C=
ENST00000467888.5:n.175-16385C=
NM_001430.4:c.27-16385C=	NP_001421.2:n.27-16385C=
XM_011532698.1:c.65+4612C=	XP_011531000.1:n.65+4612C=
XR_940055.1:n.2355+5296G=
XM_011532698.2:c.65+4612C=	XP_011531000.1:n.65+4612C=
NM_001430.5:c.27-16385C= MANE Select	NP_001421.2:n.27-16385C=