Canonical Allele Identifier: CA769354998
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs1166515601
MyVariant Identifiers: chr2:g.46557608G>A (hg19) chr2:g.46330469G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46330469G>A , CM000664.2:g.46330469G>A GRCh38
NC_000002.11:g.46557608G>A , CM000664.1:g.46557608G>A GRCh37
NC_000002.10:g.46411112G>A NCBI36
NG_016000.1:g.38068G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.27-16404G>A MANE Select ENSP00000263734.3:n.27-16404G>A
ENST00000263734.4:c.27-16404G>A ENSP00000263734.3:n.27-16404G>A
ENST00000449347.5:c.27-16404G>A ENSP00000406137.1:n.27-16404G>A
ENST00000460015.1:n.433-16404G>A
ENST00000467888.5:n.175-16404G>A
NM_001430.4:c.27-16404G>A NP_001421.2:n.27-16404G>A
XM_011532698.1:c.65+4593G>A XP_011531000.1:n.65+4593G>A
XR_940055.1:n.2355+5315C>T
XM_011532698.2:c.65+4593G>A XP_011531000.1:n.65+4593G>A
NM_001430.5:c.27-16404G>A MANE Select NP_001421.2:n.27-16404G>A
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