Canonical Allele Identifier: CA199061073

Gene: ASTN2

Linked Data

• dbSNP Id: rs552343731
• gnomAD v3: 9-116865990-C-T
• gnomAD v4: 9-116865990-C-T
• MyVariant Identifiers: chr9:g.119628269C>T (hg19) ; chr9:g.116865990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.116865990C>T , CM000671.2:g.116865990C>T	GRCh38
NC_000009.11:g.119628269C>T , CM000671.1:g.119628269C>T	GRCh37
NC_000009.10:g.118668090C>T	NCBI36
NG_021409.1:g.554049G>A
NG_021409.2:g.554068G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000313400.9:c.1890-2257G>A MANE Select	ENSP00000314038.4:n.1890-2257G>A
ENST00000361477.8:c.1737-2257G>A	ENSP00000355116.5:n.1737-2257G>A
ENST00000313400.8:c.1890-2257G>A	ENSP00000314038.4:n.1890-2257G>A
ENST00000361209.6:c.1737-2257G>A	ENSP00000354504.2:n.1737-2257G>A
ENST00000361477.7:c.-955-2257G>A	ENSP00000355116.4:n.-955-2257G>A
ENST00000373986.7:c.1059-2257G>A	ENSP00000363098.3:n.1059-2257G>A
NM_014010.4:c.1737-2257G>A	NP_054729.3:n.1737-2257G>A
NM_001365068.1:c.1890-2257G>A MANE Select	NP_001351997.1:n.1890-2257G>A
NM_001365069.1:c.1878-2257G>A	NP_001351998.1:n.1878-2257G>A
NM_014010.5:c.1737-2257G>A	NP_054729.3:n.1737-2257G>A