Canonical Allele Identifier: CA2495266818

Gene: EPAS1

Linked Data

• dbSNP Id: rs1684121801

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350254_46350258del , CM000664.2:g.46350254_46350258del	GRCh38
NC_000002.11:g.46577393_46577397del , CM000664.1:g.46577393_46577397del	GRCh37
NC_000002.10:g.46430897_46430901del	NCBI36
NG_016000.1:g.57853_57857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3191_217+3195del MANE Select	ENSP00000263734.3:n.217+3191_217+3195del
ENST00000263734.4:c.217+3191_217+3195del	ENSP00000263734.3:n.217+3191_217+3195del
ENST00000449347.5:c.217+3191_217+3195del	ENSP00000406137.1:n.217+3191_217+3195del
ENST00000475822.1:n.408+3191_408+3195del
NM_001430.4:c.217+3191_217+3195del	NP_001421.2:n.217+3191_217+3195del
XM_011532698.1:c.256+3191_256+3195del	XP_011531000.1:n.256+3191_256+3195del
XM_011532698.2:c.256+3191_256+3195del	XP_011531000.1:n.256+3191_256+3195del
NM_001430.5:c.217+3191_217+3195del MANE Select	NP_001421.2:n.217+3191_217+3195del