Canonical Allele Identifier: CA769340686

Gene: EPAS1

Linked Data

• dbSNP Id: rs1294022919
• MyVariant Identifiers: chr2:g.46533333A>T (hg19) ; chr2:g.46306194A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306194A>T , CM000664.2:g.46306194A>T	GRCh38
NC_000002.11:g.46533333A>T , CM000664.1:g.46533333A>T	GRCh37
NC_000002.10:g.46386837A>T	NCBI36
NG_016000.1:g.13793A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.26+8257A>T MANE Select	ENSP00000263734.3:n.26+8257A>T
ENST00000263734.4:c.26+8257A>T	ENSP00000263734.3:n.26+8257A>T
ENST00000449347.5:c.26+8257A>T	ENSP00000406137.1:n.26+8257A>T
ENST00000460015.1:n.432+12096A>T
ENST00000467888.5:n.174+8257A>T
NM_001430.4:c.26+8257A>T	NP_001421.2:n.26+8257A>T
XR_940055.1:n.2501+7899T>A
NM_001430.5:c.26+8257A>T MANE Select	NP_001421.2:n.26+8257A>T