Canonical Allele Identifier: CA46534615

Gene: EPAS1

Linked Data

• dbSNP Id: rs924007374
• MyVariant Identifiers: chr2:g.46577484G>T (hg19) ; chr2:g.46350345G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46350345G>T , CM000664.2:g.46350345G>T	GRCh38
NC_000002.11:g.46577484G>T , CM000664.1:g.46577484G>T	GRCh37
NC_000002.10:g.46430988G>T	NCBI36
NG_016000.1:g.57944G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.217+3282G>T MANE Select	ENSP00000263734.3:n.217+3282G>T
ENST00000263734.4:c.217+3282G>T	ENSP00000263734.3:n.217+3282G>T
ENST00000449347.5:c.217+3282G>T	ENSP00000406137.1:n.217+3282G>T
ENST00000475822.1:n.408+3282G>T
NM_001430.4:c.217+3282G>T	NP_001421.2:n.217+3282G>T
XM_011532698.1:c.256+3282G>T	XP_011531000.1:n.256+3282G>T
XM_011532698.2:c.256+3282G>T	XP_011531000.1:n.256+3282G>T
NM_001430.5:c.217+3282G>T MANE Select	NP_001421.2:n.217+3282G>T