Canonical Allele Identifier: CA393624686

Gene: ARNT2

Linked Data

• gnomAD v4: 15-80591570-G-A
• COSMIC: COSM6387266
• MyVariant Identifiers: chr15:g.80883911G>A (hg19) ; chr15:g.80591570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80591570G>A , CM000677.2:g.80591570G>A	GRCh38
NC_000015.9:g.80883911G>A , CM000677.1:g.80883911G>A	GRCh37
NC_000015.8:g.78670966G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303329.9:c.1921G>A MANE Select	ENSP00000307479.4:p.Glu641Lys
ENST00000303329.8:c.1921G>A	ENSP00000307479.4:p.Glu641Lys
ENST00000527771.5:c.1888G>A	ENSP00000453792.1:p.Glu630Lys
ENST00000533983.5:c.1888G>A	ENSP00000453651.1:p.Glu630Lys
ENST00000610490.4:c.*219G>A	ENSP00000483762.1:n.*219G>A
ENST00000622346.4:c.1921G>A	ENSP00000479393.1:p.Glu641Lys
NM_014862.3:c.1921G>A	NP_055677.3:p.Glu641Lys
NM_014862.4:c.1921G>A MANE Select	NP_055677.3:p.Glu641Lys