Canonical Allele Identifier: CA46518689

Gene: EPAS1

Linked Data

• dbSNP Id: rs571887123
• gnomAD v2: 2-46556307-C-G
• gnomAD v3: 2-46329168-C-G
• gnomAD v4: 2-46329168-C-G
• MyVariant Identifiers: chr2:g.46556307C>G (hg19) ; chr2:g.46329168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46329168C>G , CM000664.2:g.46329168C>G	GRCh38
NC_000002.11:g.46556307C>G , CM000664.1:g.46556307C>G	GRCh37
NC_000002.10:g.46409811C>G	NCBI36
NG_016000.1:g.36767C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-17705C>G MANE Select	ENSP00000263734.3:n.27-17705C>G
ENST00000263734.4:c.27-17705C>G	ENSP00000263734.3:n.27-17705C>G
ENST00000449347.5:c.27-17705C>G	ENSP00000406137.1:n.27-17705C>G
ENST00000460015.1:n.433-17705C>G
ENST00000467888.5:n.175-17705C>G
NM_001430.4:c.27-17705C>G	NP_001421.2:n.27-17705C>G
XM_011532698.1:c.65+3292C>G	XP_011531000.1:n.65+3292C>G
XR_940055.1:n.2355+6616G>C
XM_011532698.2:c.65+3292C>G	XP_011531000.1:n.65+3292C>G
NM_001430.5:c.27-17705C>G MANE Select	NP_001421.2:n.27-17705C>G