Canonical Allele Identifier: CA491688724

Gene: ARNT2

Linked Data

• dbSNP Id: rs1393081369
• gnomAD v2: 15-80883991-G-A
• gnomAD v4: 15-80591650-G-A
• MyVariant Identifiers: chr15:g.80883991G>A (hg19) ; chr15:g.80591650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80591650G>A , CM000677.2:g.80591650G>A	GRCh38
NC_000015.9:g.80883991G>A , CM000677.1:g.80883991G>A	GRCh37
NC_000015.8:g.78671046G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303329.9:c.2001G>A MANE Select	ENSP00000307479.4:p.Gln667=
ENST00000303329.8:c.2001G>A	ENSP00000307479.4:p.Gln667=
ENST00000527771.5:c.1968G>A	ENSP00000453792.1:p.Gln656=
ENST00000533983.5:c.1968G>A	ENSP00000453651.1:p.Gln656=
ENST00000610490.4:c.*299G>A	ENSP00000483762.1:n.*299G>A
ENST00000622346.4:c.2001G>A	ENSP00000479393.1:p.Gln667=
NM_014862.3:c.2001G>A	NP_055677.3:p.Gln667=
NM_014862.4:c.2001G>A MANE Select	NP_055677.3:p.Gln667=