Canonical Allele Identifier: CA2495266958

Gene: EPAS1

Linked Data

• dbSNP Id: rs1684128008

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350580T>G , CM000664.2:g.46350580T>G	GRCh38
NC_000002.11:g.46577719T>G , CM000664.1:g.46577719T>G	GRCh37
NC_000002.10:g.46431223T>G	NCBI36
NG_016000.1:g.58179T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3517T>G MANE Select	ENSP00000263734.3:n.217+3517T>G
ENST00000263734.4:c.217+3517T>G	ENSP00000263734.3:n.217+3517T>G
ENST00000449347.5:c.217+3517T>G	ENSP00000406137.1:n.217+3517T>G
ENST00000475822.1:n.408+3517T>G
NM_001430.4:c.217+3517T>G	NP_001421.2:n.217+3517T>G
XM_011532698.1:c.256+3517T>G	XP_011531000.1:n.256+3517T>G
XM_011532698.2:c.256+3517T>G	XP_011531000.1:n.256+3517T>G
NM_001430.5:c.217+3517T>G MANE Select	NP_001421.2:n.217+3517T>G