Canonical Allele Identifier: CA46559716
Gene: EPAS1 HGNC NCBI
dbSNP:
7582701
gnomAD v2:
2:46550769 G / C
gnomAD v3:
2:46323630 G / C
gnomAD v4:
chr2-46323630-G-C
Joint Max Group AF 0.65788305 (AFR)
Genomes Max Group AF 0.65788305 (AFR)
MyVariant.info:
GRCh38 chr2:g.46323630G>C
GRCh37 chr2:g.46550769G>C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46323630G>C , CM000664.2:g.46323630G>C GRCh38
NC_000002.11:g.46550769G>C , CM000664.1:g.46550769G>C GRCh37
NC_000002.10:g.46404273G>C NCBI36
NG_016000.1:g.31229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.27-23243G>C MANE Select ENSP00000263734.3:n.27-23243G>C
ENST00000263734.4:c.27-23243G>C ENSP00000263734.3:n.27-23243G>C
ENST00000449347.5:c.27-23243G>C ENSP00000406137.1:n.27-23243G>C
ENST00000460015.1:n.433-23243G>C
ENST00000467888.5:n.175-23243G>C
NM_001430.4:c.27-23243G>C NP_001421.2:n.27-23243G>C
XR_940055.1:n.2356-9392C>G
NM_001430.5:c.27-23243G>C MANE Select NP_001421.2:n.27-23243G>C
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