Canonical Allele Identifier: CA2495245872

Gene: EPAS1

Linked Data

• dbSNP Id: rs1683107098

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306239T>G , CM000664.2:g.46306239T>G	GRCh38
NC_000002.11:g.46533378T>G , CM000664.1:g.46533378T>G	GRCh37
NC_000002.10:g.46386882T>G	NCBI36
NG_016000.1:g.13838T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.26+8302T>G MANE Select	ENSP00000263734.3:n.26+8302T>G
ENST00000263734.4:c.26+8302T>G	ENSP00000263734.3:n.26+8302T>G
ENST00000449347.5:c.26+8302T>G	ENSP00000406137.1:n.26+8302T>G
ENST00000460015.1:n.432+12141T>G
ENST00000467888.5:n.174+8302T>G
NM_001430.4:c.26+8302T>G	NP_001421.2:n.26+8302T>G
XR_940055.1:n.2501+7854A>C
NM_001430.5:c.26+8302T>G MANE Select	NP_001421.2:n.26+8302T>G