Canonical Allele Identifier: CA859183640

Gene: ASTN2

Linked Data

• dbSNP Id: rs1413611380
• gnomAD v3: 9-116781999-A-G
• gnomAD v4: 9-116781999-A-G
• MyVariant Identifiers: chr9:g.119544278A>G (hg19) ; chr9:g.116781999A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116781999A>G , CM000671.2:g.116781999A>G	GRCh38
NC_000009.11:g.119544278A>G , CM000671.1:g.119544278A>G	GRCh37
NC_000009.10:g.118584099A>G	NCBI36
NG_021409.1:g.638040T>C
NG_021409.2:g.638059T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.2396+23633T>C MANE Select	ENSP00000314038.4:n.2396+23633T>C
ENST00000361477.8:c.2243+23633T>C	ENSP00000355116.5:n.2243+23633T>C
ENST00000313400.8:c.2396+23633T>C	ENSP00000314038.4:n.2396+23633T>C
ENST00000361209.6:c.2243+23633T>C	ENSP00000354504.2:n.2243+23633T>C
ENST00000361477.7:c.-449+23633T>C	ENSP00000355116.4:n.-449+23633T>C
ENST00000373986.7:c.1565+23633T>C	ENSP00000363098.3:n.1565+23633T>C
NM_014010.4:c.2243+23633T>C	NP_054729.3:n.2243+23633T>C
NM_001365068.1:c.2396+23633T>C MANE Select	NP_001351997.1:n.2396+23633T>C
NM_001365069.1:c.2384+23633T>C	NP_001351998.1:n.2384+23633T>C
NM_014010.5:c.2243+23633T>C	NP_054729.3:n.2243+23633T>C