Canonical Allele Identifier: CA1875100265
Gene: ASTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117164147T>G , CM000671.2:g.117164147T>G GRCh38
NC_000009.11:g.119926426T>G , CM000671.1:g.119926426T>G GRCh37
NC_000009.10:g.118966247T>G NCBI36
NG_021409.1:g.255892A>C
NG_021409.2:g.255911A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313400.9:c.1016-22669A>C MANE Select ENSP00000314038.4:n.1016-22669A>C
ENST00000361477.8:c.1015+50211A>C ENSP00000355116.5:n.1015+50211A>C
ENST00000313400.8:c.1016-22669A>C ENSP00000314038.4:n.1016-22669A>C
ENST00000361209.6:c.1015+50211A>C ENSP00000354504.2:n.1015+50211A>C
ENST00000361477.7:c.-1677+50211A>C ENSP00000355116.4:n.-1677+50211A>C
ENST00000373986.7:c.197-22669A>C ENSP00000363098.3:n.197-22669A>C
NM_014010.4:c.1015+50211A>C NP_054729.3:n.1015+50211A>C
NM_001365068.1:c.1016-22669A>C MANE Select NP_001351997.1:n.1016-22669A>C
NM_001365069.1:c.1016-22669A>C NP_001351998.1:n.1016-22669A>C
NM_014010.5:c.1015+50211A>C NP_054729.3:n.1015+50211A>C