Canonical Allele Identifier: CA532302367

Gene: EPAS1

Linked Data

• dbSNP Id: rs1266000909
• gnomAD v2: 2-46533296-C-T
• gnomAD v3: 2-46306157-C-T
• gnomAD v4: 2-46306157-C-T
• MyVariant Identifiers: chr2:g.46533296C>T (hg19) ; chr2:g.46306157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46306157C>T , CM000664.2:g.46306157C>T	GRCh38
NC_000002.11:g.46533296C>T , CM000664.1:g.46533296C>T	GRCh37
NC_000002.10:g.46386800C>T	NCBI36
NG_016000.1:g.13756C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263734.5:c.26+8220C>T MANE Select	ENSP00000263734.3:n.26+8220C>T
ENST00000263734.4:c.26+8220C>T	ENSP00000263734.3:n.26+8220C>T
ENST00000449347.5:c.26+8220C>T	ENSP00000406137.1:n.26+8220C>T
ENST00000460015.1:n.432+12059C>T
ENST00000467888.5:n.174+8220C>T
NM_001430.4:c.26+8220C>T	NP_001421.2:n.26+8220C>T
XR_940055.1:n.2501+7936G>A
NM_001430.5:c.26+8220C>T MANE Select	NP_001421.2:n.26+8220C>T