Canonical Allele Identifier: CA1128535396

Gene: ASTN2

Linked Data

• dbSNP Id: rs1833000012
• gnomAD v3: 9-116865792-CT-C
• gnomAD v4: 9-116865792-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116865794del , CM000671.2:g.116865794del	GRCh38
NC_000009.11:g.119628073del , CM000671.1:g.119628073del	GRCh37
NC_000009.10:g.118667894del	NCBI36
NG_021409.1:g.554246del
NG_021409.2:g.554265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.1890-2060del MANE Select	ENSP00000314038.4:n.1890-2060del
ENST00000361477.8:c.1737-2060del	ENSP00000355116.5:n.1737-2060del
ENST00000313400.8:c.1890-2060del	ENSP00000314038.4:n.1890-2060del
ENST00000361209.6:c.1737-2060del	ENSP00000354504.2:n.1737-2060del
ENST00000361477.7:c.-955-2060del	ENSP00000355116.4:n.-955-2060del
ENST00000373986.7:c.1059-2060del	ENSP00000363098.3:n.1059-2060del
NM_014010.4:c.1737-2060del	NP_054729.3:n.1737-2060del
NM_001365068.1:c.1890-2060del MANE Select	NP_001351997.1:n.1890-2060del
NM_001365069.1:c.1878-2060del	NP_001351998.1:n.1878-2060del
NM_014010.5:c.1737-2060del	NP_054729.3:n.1737-2060del