Canonical Allele Identifier: CA1874916129
Gene: ASTN2 HGNC NCBI

Linked Data

dbSNP Id: rs1830237868

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116782210C>A , CM000671.2:g.116782210C>A GRCh38
NC_000009.11:g.119544489C>A , CM000671.1:g.119544489C>A GRCh37
NC_000009.10:g.118584310C>A NCBI36
NG_021409.1:g.637829G>T
NG_021409.2:g.637848G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000313400.9:c.2396+23422G>T MANE Select ENSP00000314038.4:n.2396+23422G>T
ENST00000361477.8:c.2243+23422G>T ENSP00000355116.5:n.2243+23422G>T
ENST00000313400.8:c.2396+23422G>T ENSP00000314038.4:n.2396+23422G>T
ENST00000361209.6:c.2243+23422G>T ENSP00000354504.2:n.2243+23422G>T
ENST00000361477.7:c.-449+23422G>T ENSP00000355116.4:n.-449+23422G>T
ENST00000373986.7:c.1565+23422G>T ENSP00000363098.3:n.1565+23422G>T
NM_014010.4:c.2243+23422G>T NP_054729.3:n.2243+23422G>T
NM_001365068.1:c.2396+23422G>T MANE Select NP_001351997.1:n.2396+23422G>T
NM_001365069.1:c.2384+23422G>T NP_001351998.1:n.2384+23422G>T
NM_014010.5:c.2243+23422G>T NP_054729.3:n.2243+23422G>T