Canonical Allele Identifier: CA2699153002

Gene: EPAS1

Linked Data

• dbSNP Id: rs2103619793

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350191T>G , CM000664.2:g.46350191T>G	GRCh38
NC_000002.11:g.46577330T>G , CM000664.1:g.46577330T>G	GRCh37
NC_000002.10:g.46430834T>G	NCBI36
NG_016000.1:g.57790T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3128T>G MANE Select	ENSP00000263734.3:n.217+3128T>G
ENST00000263734.4:c.217+3128T>G	ENSP00000263734.3:n.217+3128T>G
ENST00000449347.5:c.217+3128T>G	ENSP00000406137.1:n.217+3128T>G
ENST00000475822.1:n.408+3128T>G
NM_001430.4:c.217+3128T>G	NP_001421.2:n.217+3128T>G
XM_011532698.1:c.256+3128T>G	XP_011531000.1:n.256+3128T>G
XM_011532698.2:c.256+3128T>G	XP_011531000.1:n.256+3128T>G
NM_001430.5:c.217+3128T>G MANE Select	NP_001421.2:n.217+3128T>G