Canonical Allele Identifier: CA2782667815
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116127_2116130del , CM000671.2:g.2116127_2116130del GRCh38
NC_000009.11:g.2116127_2116130del , CM000671.1:g.2116127_2116130del GRCh37
NC_000009.10:g.2106127_2106130del NCBI36
NG_032162.1:g.105786_105789del
NG_032162.2:g.140838_140841del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+78_3324+81del ENSP00000515861.1:n.3324+78_3324+81del
ENST00000704352.1:c.1174-45559_1174-45556del ENSP00000515863.1:n.1174-45559_1174-45556del
ENST00000704353.1:c.1174-45559_1174-45556del ENSP00000515864.1:n.1174-45559_1174-45556del
ENST00000704354.1:c.3668+78_3668+81del
ENST00000704355.1:c.2048+78_2048+81del
ENST00000349721.8:c.3684+78_3684+81del MANE Select ENSP00000265773.5:n.3684+78_3684+81del
ENST00000357248.8:c.3684+78_3684+81del ENSP00000349788.2:n.3684+78_3684+81del
ENST00000635739.1:n.2352+78_2352+81del
ENST00000636157.1:n.1291+78_1291+81del
ENST00000638139.1:n.718+78_718+81del
ENST00000349721.7:c.3684+78_3684+81del ENSP00000265773.5:n.3684+78_3684+81del
ENST00000357248.7:c.3684+78_3684+81del ENSP00000349788.2:n.3684+78_3684+81del
ENST00000382194.6:c.3684+78_3684+81del ENSP00000371629.1:n.3684+78_3684+81del
ENST00000382203.5:c.3684+78_3684+81del ENSP00000371638.1:n.3684+78_3684+81del
ENST00000450198.6:c.3510+78_3510+81del ENSP00000392081.2:n.3510+78_3510+81del
ENST00000634760.1:c.3684+78_3684+81del ENSP00000489256.1:n.3684+78_3684+81del
ENST00000634772.1:c.62-3331_62-3328del
ENST00000634925.1:n.1175+78_1175+81del
NM_001289396.1:c.3684+78_3684+81del NP_001276325.1:n.3684+78_3684+81del
NM_001289397.1:c.3510+78_3510+81del NP_001276326.1:n.3510+78_3510+81del
NM_003070.4:c.3684+78_3684+81del NP_003061.3:n.3684+78_3684+81del
NM_139045.3:c.3684+78_3684+81del NP_620614.2:n.3684+78_3684+81del
NM_003070.5:c.3684+78_3684+81del MANE Select NP_003061.3:n.3684+78_3684+81del
NM_001289397.2:c.3510+78_3510+81del NP_001276326.1:n.3510+78_3510+81del
NM_139045.4:c.3684+78_3684+81del NP_620614.2:n.3684+78_3684+81del