Canonical Allele Identifier: CA1875099006
Community Standard Title: NM_001365068.1(ASTN2):c.1016-21338C=
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117162816G= , CM000671.2:g.117162816G= GRCh38
NC_000009.11:g.119925095G= , CM000671.1:g.119925095G= GRCh37
NC_000009.10:g.118964916G= NCBI36
NG_021409.1:g.257223C=
NG_021409.2:g.257242C=

Transcript Alleles

HGVS Amino-acid Change
NM_001365068.1:c.1016-21338C= MANE Select NP_001351997.1:n.1016-21338C=
ENST00000313400.9:c.1016-21338C= MANE Select ENSP00000314038.4:n.1016-21338C=
NM_001365069.1:c.1016-21338C= NP_001351998.1:n.1016-21338C=
NM_014010.4:c.1015+51542C= NP_054729.3:n.1015+51542C=
NM_014010.5:c.1015+51542C= NP_054729.3:n.1015+51542C=
ENST00000313400.8:c.1016-21338C= ENSP00000314038.4:n.1016-21338C=
ENST00000361209.6:c.1015+51542C= ENSP00000354504.2:n.1015+51542C=
ENST00000361477.7:c.-1677+51542C= ENSP00000355116.4:n.-1677+51542C=
ENST00000361477.8:c.1015+51542C= ENSP00000355116.5:n.1015+51542C=
ENST00000373986.7:c.197-21338C= ENSP00000363098.3:n.197-21338C=