Canonical Allele Identifier: CA1874916085
Gene: ASTN2 HGNC NCBI

Linked Data

dbSNP Id: rs1830235270

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116782113_116782116del , CM000671.2:g.116782113_116782116del GRCh38
NC_000009.11:g.119544392_119544395del , CM000671.1:g.119544392_119544395del GRCh37
NC_000009.10:g.118584213_118584216del NCBI36
NG_021409.1:g.637925_637928del
NG_021409.2:g.637944_637947del

Transcript Alleles

HGVS Amino-acid Change
ENST00000313400.9:c.2396+23518_2396+23521del MANE Select ENSP00000314038.4:n.2396+23518_2396+23521del
ENST00000361477.8:c.2243+23518_2243+23521del ENSP00000355116.5:n.2243+23518_2243+23521del
ENST00000313400.8:c.2396+23518_2396+23521del ENSP00000314038.4:n.2396+23518_2396+23521del
ENST00000361209.6:c.2243+23518_2243+23521del ENSP00000354504.2:n.2243+23518_2243+23521del
ENST00000361477.7:c.-449+23518_-449+23521del ENSP00000355116.4:n.-449+23518_-449+23521del
ENST00000373986.7:c.1565+23518_1565+23521del ENSP00000363098.3:n.1565+23518_1565+23521del
NM_014010.4:c.2243+23518_2243+23521del NP_054729.3:n.2243+23518_2243+23521del
NM_001365068.1:c.2396+23518_2396+23521del MANE Select NP_001351997.1:n.2396+23518_2396+23521del
NM_001365069.1:c.2384+23518_2384+23521del NP_001351998.1:n.2384+23518_2384+23521del
NM_014010.5:c.2243+23518_2243+23521del NP_054729.3:n.2243+23518_2243+23521del