Canonical Allele Identifier: CA2528634515
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116782084_116782104del , CM000671.2:g.116782084_116782104del GRCh38
NC_000009.11:g.119544363_119544383del , CM000671.1:g.119544363_119544383del GRCh37
NC_000009.10:g.118584184_118584204del NCBI36
NG_021409.1:g.637935_637955del
NG_021409.2:g.637954_637974del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313400.9:c.2396+23528_2396+23548del MANE Select ENSP00000314038.4:n.2396+23528_2396+23548del
ENST00000361477.8:c.2243+23528_2243+23548del ENSP00000355116.5:n.2243+23528_2243+23548del
ENST00000313400.8:c.2396+23528_2396+23548del ENSP00000314038.4:n.2396+23528_2396+23548del
ENST00000361209.6:c.2243+23528_2243+23548del ENSP00000354504.2:n.2243+23528_2243+23548del
ENST00000361477.7:c.-449+23528_-449+23548del ENSP00000355116.4:n.-449+23528_-449+23548del
ENST00000373986.7:c.1565+23528_1565+23548del ENSP00000363098.3:n.1565+23528_1565+23548del
NM_014010.4:c.2243+23528_2243+23548del NP_054729.3:n.2243+23528_2243+23548del
NM_001365068.1:c.2396+23528_2396+23548del MANE Select NP_001351997.1:n.2396+23528_2396+23548del
NM_001365069.1:c.2384+23528_2384+23548del NP_001351998.1:n.2384+23528_2384+23548del
NM_014010.5:c.2243+23528_2243+23548del NP_054729.3:n.2243+23528_2243+23548del