Canonical Allele Identifier: CA199051389

Gene: ASTN2

Linked Data

• dbSNP Id: rs577613966
• gnomAD v2: 9-119544307-C-T
• gnomAD v3: 9-116782028-C-T
• gnomAD v4: 9-116782028-C-T
• MyVariant Identifiers: chr9:g.119544307C>T (hg19) ; chr9:g.116782028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116782028C>T , CM000671.2:g.116782028C>T	GRCh38
NC_000009.11:g.119544307C>T , CM000671.1:g.119544307C>T	GRCh37
NC_000009.10:g.118584128C>T	NCBI36
NG_021409.1:g.638011G>A
NG_021409.2:g.638030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313400.9:c.2396+23604G>A MANE Select	ENSP00000314038.4:n.2396+23604G>A
ENST00000361477.8:c.2243+23604G>A	ENSP00000355116.5:n.2243+23604G>A
ENST00000313400.8:c.2396+23604G>A	ENSP00000314038.4:n.2396+23604G>A
ENST00000361209.6:c.2243+23604G>A	ENSP00000354504.2:n.2243+23604G>A
ENST00000361477.7:c.-449+23604G>A	ENSP00000355116.4:n.-449+23604G>A
ENST00000373986.7:c.1565+23604G>A	ENSP00000363098.3:n.1565+23604G>A
NM_014010.4:c.2243+23604G>A	NP_054729.3:n.2243+23604G>A
NM_001365068.1:c.2396+23604G>A MANE Select	NP_001351997.1:n.2396+23604G>A
NM_001365069.1:c.2384+23604G>A	NP_001351998.1:n.2384+23604G>A
NM_014010.5:c.2243+23604G>A	NP_054729.3:n.2243+23604G>A