Canonical Allele Identifier: CA393624804
Gene: ARNT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80591621T>C , CM000677.2:g.80591621T>C GRCh38
NC_000015.9:g.80883962T>C , CM000677.1:g.80883962T>C GRCh37
NC_000015.8:g.78671017T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303329.9:c.1972T>C MANE Select ENSP00000307479.4:p.Ser658Pro
ENST00000303329.8:c.1972T>C ENSP00000307479.4:p.Ser658Pro
ENST00000527771.5:c.1939T>C ENSP00000453792.1:p.Ser647Pro
ENST00000533983.5:c.1939T>C ENSP00000453651.1:p.Ser647Pro
ENST00000610490.4:c.*270T>C ENSP00000483762.1:n.*270T>C
ENST00000622346.4:c.1972T>C ENSP00000479393.1:p.Ser658Pro
NM_014862.3:c.1972T>C NP_055677.3:p.Ser658Pro
NM_014862.4:c.1972T>C MANE Select NP_055677.3:p.Ser658Pro