Canonical Allele Identifier: CA1874881186
Community Standard Title: NM_001365068.1(ASTN2):c.2806+20390C=
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116705381G= , CM000671.2:g.116705381G= GRCh38
NC_000009.11:g.119467660G= , CM000671.1:g.119467660G= GRCh37
NC_000009.10:g.118507481G= NCBI36
NG_021409.1:g.714658C=
NG_021409.2:g.714677C=

Transcript Alleles

HGVS Amino-acid Change
NM_001365068.1:c.2806+20390C= MANE Select NP_001351997.1:n.2806+20390C=
ENST00000313400.9:c.2806+20390C= MANE Select ENSP00000314038.4:n.2806+20390C=
NM_001365069.1:c.2794+20390C= NP_001351998.1:n.2794+20390C=
NM_014010.4:c.2653+20390C= NP_054729.3:n.2653+20390C=
NM_014010.5:c.2653+20390C= NP_054729.3:n.2653+20390C=
ENST00000313400.8:c.2806+20390C= ENSP00000314038.4:n.2806+20390C=
ENST00000361209.6:c.2653+20390C= ENSP00000354504.2:n.2653+20390C=
ENST00000361477.7:c.-39+20390C= ENSP00000355116.4:n.-39+20390C=
ENST00000361477.8:c.2653+20390C= ENSP00000355116.5:n.2653+20390C=
ENST00000373986.7:c.1975+20390C= ENSP00000363098.3:n.1975+20390C=