Canonical Allele Identifier: CA619268021
Gene: ARNT2 HGNC NCBI

Linked Data

dbSNP Id: rs1260627991
gnomAD v2: 15-80883862-C-A
gnomAD v4: 15-80591521-C-A
MyVariant Identifiers: chr15:g.80883862C>A (hg19) chr15:g.80591521C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80591521C>A , CM000677.2:g.80591521C>A GRCh38
NC_000015.9:g.80883862C>A , CM000677.1:g.80883862C>A GRCh37
NC_000015.8:g.78670917C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303329.9:c.1919-47C>A MANE Select ENSP00000307479.4:n.1919-47C>A
ENST00000303329.8:c.1919-47C>A ENSP00000307479.4:n.1919-47C>A
ENST00000527771.5:c.1886-47C>A ENSP00000453792.1:n.1886-47C>A
ENST00000533983.5:c.1886-47C>A ENSP00000453651.1:n.1886-47C>A
ENST00000610490.4:c.*217-47C>A ENSP00000483762.1:n.*217-47C>A
ENST00000622346.4:c.1919-47C>A ENSP00000479393.1:n.1919-47C>A
NM_014862.3:c.1919-47C>A NP_055677.3:n.1919-47C>A
NM_014862.4:c.1919-47C>A MANE Select NP_055677.3:n.1919-47C>A
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