Canonical Allele Identifier: CA393624808

Gene: ARNT2

Linked Data

• dbSNP Id: rs1893281412
• gnomAD v4: 15-80591622-C-T
• MyVariant Identifiers: chr15:g.80883963C>T (hg19) ; chr15:g.80591622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80591622C>T , CM000677.2:g.80591622C>T	GRCh38
NC_000015.9:g.80883963C>T , CM000677.1:g.80883963C>T	GRCh37
NC_000015.8:g.78671018C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303329.9:c.1973C>T MANE Select	ENSP00000307479.4:p.Ser658Leu
ENST00000303329.8:c.1973C>T	ENSP00000307479.4:p.Ser658Leu
ENST00000527771.5:c.1940C>T	ENSP00000453792.1:p.Ser647Leu
ENST00000533983.5:c.1940C>T	ENSP00000453651.1:p.Ser647Leu
ENST00000610490.4:c.*271C>T	ENSP00000483762.1:n.*271C>T
ENST00000622346.4:c.1973C>T	ENSP00000479393.1:p.Ser658Leu
NM_014862.3:c.1973C>T	NP_055677.3:p.Ser658Leu
NM_014862.4:c.1973C>T MANE Select	NP_055677.3:p.Ser658Leu