Canonical Allele Identifier: CA372788940
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115963C>A , CM000671.2:g.2115963C>A GRCh38
NC_000009.11:g.2115963C>A , CM000671.1:g.2115963C>A GRCh37
NC_000009.10:g.2105963C>A NCBI36
NG_032162.1:g.105622C>A
NG_032162.2:g.140674C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3238C>A ENSP00000515861.1:p.Gln1080Lys
ENST00000704352.1:c.1174-45723C>A ENSP00000515863.1:n.1174-45723C>A
ENST00000704353.1:c.1174-45723C>A ENSP00000515864.1:n.1174-45723C>A
ENST00000704354.1:c.3582C>A
ENST00000704355.1:c.1962C>A
ENST00000349721.8:c.3598C>A MANE Select ENSP00000265773.5:p.Gln1200Lys
ENST00000357248.8:c.3598C>A ENSP00000349788.2:p.Gln1200Lys
ENST00000635739.1:n.2266C>A
ENST00000636157.1:n.1205C>A
ENST00000638139.1:n.632C>A
ENST00000349721.7:c.3598C>A ENSP00000265773.5:p.Gln1200Lys
ENST00000357248.7:c.3598C>A ENSP00000349788.2:p.Gln1200Lys
ENST00000382194.6:c.3598C>A ENSP00000371629.1:p.Gln1200Lys
ENST00000382203.5:c.3598C>A ENSP00000371638.1:p.Gln1200Lys
ENST00000450198.6:c.3424C>A ENSP00000392081.2:p.Gln1142Lys
ENST00000634760.1:c.3598C>A ENSP00000489256.1:p.Gln1200Lys
ENST00000634772.1:c.62-3495C>A
ENST00000634925.1:n.1089C>A
NM_001289396.1:c.3598C>A NP_001276325.1:p.Gln1200Lys
NM_001289397.1:c.3424C>A NP_001276326.1:p.Gln1142Lys
NM_003070.4:c.3598C>A NP_003061.3:p.Gln1200Lys
NM_139045.3:c.3598C>A NP_620614.2:p.Gln1200Lys
NM_003070.5:c.3598C>A MANE Select NP_003061.3:p.Gln1200Lys
NM_001289397.2:c.3424C>A NP_001276326.1:p.Gln1142Lys
NM_139045.4:c.3598C>A NP_620614.2:p.Gln1200Lys