Canonical Allele Identifier: CA2495266987

Gene: EPAS1

Linked Data

• dbSNP Id: rs1684129112

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350642_46350652del , CM000664.2:g.46350642_46350652del	GRCh38
NC_000002.11:g.46577781_46577791del , CM000664.1:g.46577781_46577791del	GRCh37
NC_000002.10:g.46431285_46431295del	NCBI36
NG_016000.1:g.58241_58251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.217+3579_217+3589del MANE Select	ENSP00000263734.3:n.217+3579_217+3589del
ENST00000263734.4:c.217+3579_217+3589del	ENSP00000263734.3:n.217+3579_217+3589del
ENST00000449347.5:c.217+3579_217+3589del	ENSP00000406137.1:n.217+3579_217+3589del
ENST00000475822.1:n.408+3579_408+3589del
NM_001430.4:c.217+3579_217+3589del	NP_001421.2:n.217+3579_217+3589del
XM_011532698.1:c.256+3579_256+3589del	XP_011531000.1:n.256+3579_256+3589del
XM_011532698.2:c.256+3579_256+3589del	XP_011531000.1:n.256+3579_256+3589del
NM_001430.5:c.217+3579_217+3589del MANE Select	NP_001421.2:n.217+3579_217+3589del