Canonical Allele Identifier: CA1875198799
Community Standard Title: NM_001365068.1(ASTN2):c.442+39018G=
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117375479C= , CM000671.2:g.117375479C= GRCh38
NC_000009.11:g.120137758C= , CM000671.1:g.120137758C= GRCh37
NC_000009.10:g.119177579C= NCBI36
NG_021409.1:g.44560G=
NG_021409.2:g.44579G=

Transcript Alleles

HGVS Amino-acid Change
NM_001365068.1:c.442+39018G= MANE Select NP_001351997.1:n.442+39018G=
ENST00000313400.9:c.442+39018G= MANE Select ENSP00000314038.4:n.442+39018G=
NM_001365069.1:c.442+39018G= NP_001351998.1:n.442+39018G=
NM_014010.4:c.442+39018G= NP_054729.3:n.442+39018G=
NM_014010.5:c.442+39018G= NP_054729.3:n.442+39018G=
ENST00000313400.8:c.442+39018G= ENSP00000314038.4:n.442+39018G=
ENST00000361209.6:c.442+39018G= ENSP00000354504.2:n.442+39018G=
ENST00000361477.7:c.-2250+39018G= ENSP00000355116.4:n.-2250+39018G=
ENST00000361477.8:c.442+39018G= ENSP00000355116.5:n.442+39018G=