Canonical Allele Identifier: CA769354180

Gene: EPAS1

Linked Data

• dbSNP Id: rs1168579902
• gnomAD v3: 2-46329166-AC-A
• gnomAD v4: 2-46329166-AC-A
• MyVariant Identifiers: chr2:g.46556306del (hg19) ; chr2:g.46329167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329169del , CM000664.2:g.46329169del	GRCh38
NC_000002.11:g.46556308del , CM000664.1:g.46556308del	GRCh37
NC_000002.10:g.46409812del	NCBI36
NG_016000.1:g.36768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17704del MANE Select	ENSP00000263734.3:n.27-17704del
ENST00000263734.4:c.27-17704del	ENSP00000263734.3:n.27-17704del
ENST00000449347.5:c.27-17704del	ENSP00000406137.1:n.27-17704del
ENST00000460015.1:n.433-17704del
ENST00000467888.5:n.175-17704del
NM_001430.4:c.27-17704del	NP_001421.2:n.27-17704del
XM_011532698.1:c.65+3293del	XP_011531000.1:n.65+3293del
XR_940055.1:n.2355+6617del
XM_011532698.2:c.65+3293del	XP_011531000.1:n.65+3293del
NM_001430.5:c.27-17704del MANE Select	NP_001421.2:n.27-17704del