Canonical Allele Identifier: CA2566600828
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116782108_116782123del , CM000671.2:g.116782108_116782123del GRCh38
NC_000009.11:g.119544387_119544402del , CM000671.1:g.119544387_119544402del GRCh37
NC_000009.10:g.118584208_118584223del NCBI36
NG_021409.1:g.637916_637931del
NG_021409.2:g.637935_637950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313400.9:c.2396+23509_2396+23524del MANE Select ENSP00000314038.4:n.2396+23509_2396+23524del
ENST00000361477.8:c.2243+23509_2243+23524del ENSP00000355116.5:n.2243+23509_2243+23524del
ENST00000313400.8:c.2396+23509_2396+23524del ENSP00000314038.4:n.2396+23509_2396+23524del
ENST00000361209.6:c.2243+23509_2243+23524del ENSP00000354504.2:n.2243+23509_2243+23524del
ENST00000361477.7:c.-449+23509_-449+23524del ENSP00000355116.4:n.-449+23509_-449+23524del
ENST00000373986.7:c.1565+23509_1565+23524del ENSP00000363098.3:n.1565+23509_1565+23524del
NM_014010.4:c.2243+23509_2243+23524del NP_054729.3:n.2243+23509_2243+23524del
NM_001365068.1:c.2396+23509_2396+23524del MANE Select NP_001351997.1:n.2396+23509_2396+23524del
NM_001365069.1:c.2384+23509_2384+23524del NP_001351998.1:n.2384+23509_2384+23524del
NM_014010.5:c.2243+23509_2243+23524del NP_054729.3:n.2243+23509_2243+23524del