Canonical Allele Identifier: CA199122358

Gene: ASTN2

Linked Data

• dbSNP Id: rs922580572
• gnomAD v3: 9-117375539-A-G
• gnomAD v4: 9-117375539-A-G
• MyVariant Identifiers: chr9:g.120137818A>G (hg19) ; chr9:g.117375539A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117375539A>G , CM000671.2:g.117375539A>G	GRCh38
NC_000009.11:g.120137818A>G , CM000671.1:g.120137818A>G	GRCh37
NC_000009.10:g.119177639A>G	NCBI36
NG_021409.1:g.44500T>C
NG_021409.2:g.44519T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.442+38958T>C MANE Select	ENSP00000314038.4:n.442+38958T>C
ENST00000361477.8:c.442+38958T>C	ENSP00000355116.5:n.442+38958T>C
ENST00000313400.8:c.442+38958T>C	ENSP00000314038.4:n.442+38958T>C
ENST00000361209.6:c.442+38958T>C	ENSP00000354504.2:n.442+38958T>C
ENST00000361477.7:c.-2250+38958T>C	ENSP00000355116.4:n.-2250+38958T>C
NM_014010.4:c.442+38958T>C	NP_054729.3:n.442+38958T>C
NM_001365068.1:c.442+38958T>C MANE Select	NP_001351997.1:n.442+38958T>C
NM_001365069.1:c.442+38958T>C	NP_001351998.1:n.442+38958T>C
NM_014010.5:c.442+38958T>C	NP_054729.3:n.442+38958T>C