Canonical Allele Identifier: CA2785714884
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.116782144G>C , CM000671.2:g.116782144G>C GRCh38
NC_000009.11:g.119544423G>C , CM000671.1:g.119544423G>C GRCh37
NC_000009.10:g.118584244G>C NCBI36
NG_021409.1:g.637895C>G
NG_021409.2:g.637914C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000313400.9:c.2396+23488C>G MANE Select ENSP00000314038.4:n.2396+23488C>G
ENST00000361477.8:c.2243+23488C>G ENSP00000355116.5:n.2243+23488C>G
ENST00000313400.8:c.2396+23488C>G ENSP00000314038.4:n.2396+23488C>G
ENST00000361209.6:c.2243+23488C>G ENSP00000354504.2:n.2243+23488C>G
ENST00000361477.7:c.-449+23488C>G ENSP00000355116.4:n.-449+23488C>G
ENST00000373986.7:c.1565+23488C>G ENSP00000363098.3:n.1565+23488C>G
NM_014010.4:c.2243+23488C>G NP_054729.3:n.2243+23488C>G
NM_001365068.1:c.2396+23488C>G MANE Select NP_001351997.1:n.2396+23488C>G
NM_001365069.1:c.2384+23488C>G NP_001351998.1:n.2384+23488C>G
NM_014010.5:c.2243+23488C>G NP_054729.3:n.2243+23488C>G