Canonical Allele Identifier: CA46547596
Gene: EPAS1 HGNC NCBI

Linked Data

dbSNP Id: rs570501267
gnomAD v2: 2-46533330-T-G
gnomAD v3: 2-46306191-T-G
gnomAD v4: 2-46306191-T-G
MyVariant Identifiers: chr2:g.46533330T>G (hg19) chr2:g.46306191T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.46306191T>G , CM000664.2:g.46306191T>G GRCh38
NC_000002.11:g.46533330T>G , CM000664.1:g.46533330T>G GRCh37
NC_000002.10:g.46386834T>G NCBI36
NG_016000.1:g.13790T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263734.5:c.26+8254T>G MANE Select ENSP00000263734.3:n.26+8254T>G
ENST00000263734.4:c.26+8254T>G ENSP00000263734.3:n.26+8254T>G
ENST00000449347.5:c.26+8254T>G ENSP00000406137.1:n.26+8254T>G
ENST00000460015.1:n.432+12093T>G
ENST00000467888.5:n.174+8254T>G
NM_001430.4:c.26+8254T>G NP_001421.2:n.26+8254T>G
XR_940055.1:n.2501+7902A>C
NM_001430.5:c.26+8254T>G MANE Select NP_001421.2:n.26+8254T>G
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