Canonical Allele Identifier: CA769340680

Gene: EPAS1

Linked Data

• dbSNP Id: rs1321685350
• gnomAD v3: 2-46306176-GTA-G
• gnomAD v4: 2-46306176-GTA-G
• MyVariant Identifiers: chr2:g.46533316_46533317del (hg19) ; chr2:g.46306177_46306178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306178_46306179del , CM000664.2:g.46306178_46306179del	GRCh38
NC_000002.11:g.46533317_46533318del , CM000664.1:g.46533317_46533318del	GRCh37
NC_000002.10:g.46386821_46386822del	NCBI36
NG_016000.1:g.13777_13778del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.26+8241_26+8242del MANE Select	ENSP00000263734.3:n.26+8241_26+8242del
ENST00000263734.4:c.26+8241_26+8242del	ENSP00000263734.3:n.26+8241_26+8242del
ENST00000449347.5:c.26+8241_26+8242del	ENSP00000406137.1:n.26+8241_26+8242del
ENST00000460015.1:n.432+12080_432+12081del
ENST00000467888.5:n.174+8241_174+8242del
NM_001430.4:c.26+8241_26+8242del	NP_001421.2:n.26+8241_26+8242del
XR_940055.1:n.2501+7915_2501+7916del
NM_001430.5:c.26+8241_26+8242del MANE Select	NP_001421.2:n.26+8241_26+8242del