Canonical Allele Identifier: CA2495256682

Gene: EPAS1

Linked Data

• dbSNP Id: rs1683619154

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329037T>C , CM000664.2:g.46329037T>C	GRCh38
NC_000002.11:g.46556176T>C , CM000664.1:g.46556176T>C	GRCh37
NC_000002.10:g.46409680T>C	NCBI36
NG_016000.1:g.36636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17836T>C MANE Select	ENSP00000263734.3:n.27-17836T>C
ENST00000263734.4:c.27-17836T>C	ENSP00000263734.3:n.27-17836T>C
ENST00000449347.5:c.27-17836T>C	ENSP00000406137.1:n.27-17836T>C
ENST00000460015.1:n.433-17836T>C
ENST00000467888.5:n.175-17836T>C
NM_001430.4:c.27-17836T>C	NP_001421.2:n.27-17836T>C
XM_011532698.1:c.65+3161T>C	XP_011531000.1:n.65+3161T>C
XR_940055.1:n.2355+6747A>G
XM_011532698.2:c.65+3161T>C	XP_011531000.1:n.65+3161T>C
NM_001430.5:c.27-17836T>C MANE Select	NP_001421.2:n.27-17836T>C