Canonical Allele Identifier: CA2495257382

Gene: EPAS1

Linked Data

• dbSNP Id: rs1683652019

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46330460T>C , CM000664.2:g.46330460T>C	GRCh38
NC_000002.11:g.46557599T>C , CM000664.1:g.46557599T>C	GRCh37
NC_000002.10:g.46411103T>C	NCBI36
NG_016000.1:g.38059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-16413T>C MANE Select	ENSP00000263734.3:n.27-16413T>C
ENST00000263734.4:c.27-16413T>C	ENSP00000263734.3:n.27-16413T>C
ENST00000449347.5:c.27-16413T>C	ENSP00000406137.1:n.27-16413T>C
ENST00000460015.1:n.433-16413T>C
ENST00000467888.5:n.175-16413T>C
NM_001430.4:c.27-16413T>C	NP_001421.2:n.27-16413T>C
XM_011532698.1:c.65+4584T>C	XP_011531000.1:n.65+4584T>C
XR_940055.1:n.2355+5324A>G
XM_011532698.2:c.65+4584T>C	XP_011531000.1:n.65+4584T>C
NM_001430.5:c.27-16413T>C MANE Select	NP_001421.2:n.27-16413T>C