Canonical Allele Identifier: CA769354992

Gene: EPAS1

Linked Data

• dbSNP Id: rs1356988341
• MyVariant Identifiers: chr2:g.46557593A>G (hg19) ; chr2:g.46330454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.46330454A>G , CM000664.2:g.46330454A>G	GRCh38
NC_000002.11:g.46557593A>G , CM000664.1:g.46557593A>G	GRCh37
NC_000002.10:g.46411097A>G	NCBI36
NG_016000.1:g.38053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263734.5:c.27-16419A>G MANE Select	ENSP00000263734.3:n.27-16419A>G
ENST00000263734.4:c.27-16419A>G	ENSP00000263734.3:n.27-16419A>G
ENST00000449347.5:c.27-16419A>G	ENSP00000406137.1:n.27-16419A>G
ENST00000460015.1:n.433-16419A>G
ENST00000467888.5:n.175-16419A>G
NM_001430.4:c.27-16419A>G	NP_001421.2:n.27-16419A>G
XM_011532698.1:c.65+4578A>G	XP_011531000.1:n.65+4578A>G
XR_940055.1:n.2355+5330T>C
XM_011532698.2:c.65+4578A>G	XP_011531000.1:n.65+4578A>G
NM_001430.5:c.27-16419A>G MANE Select	NP_001421.2:n.27-16419A>G