Canonical Allele Identifier: CA372788777
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115892C>A , CM000671.2:g.2115892C>A GRCh38
NC_000009.11:g.2115892C>A , CM000671.1:g.2115892C>A GRCh37
NC_000009.10:g.2105892C>A NCBI36
NG_032162.1:g.105551C>A
NG_032162.2:g.140603C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3167C>A ENSP00000515861.1:p.Thr1056Asn
ENST00000704352.1:c.1174-45794C>A ENSP00000515863.1:n.1174-45794C>A
ENST00000704353.1:c.1174-45794C>A ENSP00000515864.1:n.1174-45794C>A
ENST00000704354.1:c.3511C>A
ENST00000704355.1:c.1891C>A
ENST00000349721.8:c.3527C>A MANE Select ENSP00000265773.5:p.Thr1176Asn
ENST00000357248.8:c.3527C>A ENSP00000349788.2:p.Thr1176Asn
ENST00000635739.1:n.2195C>A
ENST00000636157.1:n.1134C>A
ENST00000638139.1:n.561C>A
ENST00000349721.7:c.3527C>A ENSP00000265773.5:p.Thr1176Asn
ENST00000357248.7:c.3527C>A ENSP00000349788.2:p.Thr1176Asn
ENST00000382194.6:c.3527C>A ENSP00000371629.1:p.Thr1176Asn
ENST00000382203.5:c.3527C>A ENSP00000371638.1:p.Thr1176Asn
ENST00000450198.6:c.3353C>A ENSP00000392081.2:p.Thr1118Asn
ENST00000634760.1:c.3527C>A ENSP00000489256.1:p.Thr1176Asn
ENST00000634772.1:c.62-3566C>A
ENST00000634925.1:n.1018C>A
NM_001289396.1:c.3527C>A NP_001276325.1:p.Thr1176Asn
NM_001289397.1:c.3353C>A NP_001276326.1:p.Thr1118Asn
NM_003070.4:c.3527C>A NP_003061.3:p.Thr1176Asn
NM_139045.3:c.3527C>A NP_620614.2:p.Thr1176Asn
NM_003070.5:c.3527C>A MANE Select NP_003061.3:p.Thr1176Asn
NM_001289397.2:c.3353C>A NP_001276326.1:p.Thr1118Asn
NM_139045.4:c.3527C>A NP_620614.2:p.Thr1176Asn