Canonical Allele Identifier: CA2782667790
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116105_2116109del , CM000671.2:g.2116105_2116109del GRCh38
NC_000009.11:g.2116105_2116109del , CM000671.1:g.2116105_2116109del GRCh37
NC_000009.10:g.2106105_2106109del NCBI36
NG_032162.1:g.105764_105768del
NG_032162.2:g.140816_140820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+56_3324+60del ENSP00000515861.1:n.3324+56_3324+60del
ENST00000704352.1:c.1174-45581_1174-45577del ENSP00000515863.1:n.1174-45581_1174-45577del
ENST00000704353.1:c.1174-45581_1174-45577del ENSP00000515864.1:n.1174-45581_1174-45577del
ENST00000704354.1:c.3668+56_3668+60del
ENST00000704355.1:c.2048+56_2048+60del
ENST00000349721.8:c.3684+56_3684+60del MANE Select ENSP00000265773.5:n.3684+56_3684+60del
ENST00000357248.8:c.3684+56_3684+60del ENSP00000349788.2:n.3684+56_3684+60del
ENST00000635739.1:n.2352+56_2352+60del
ENST00000636157.1:n.1291+56_1291+60del
ENST00000638139.1:n.718+56_718+60del
ENST00000349721.7:c.3684+56_3684+60del ENSP00000265773.5:n.3684+56_3684+60del
ENST00000357248.7:c.3684+56_3684+60del ENSP00000349788.2:n.3684+56_3684+60del
ENST00000382194.6:c.3684+56_3684+60del ENSP00000371629.1:n.3684+56_3684+60del
ENST00000382203.5:c.3684+56_3684+60del ENSP00000371638.1:n.3684+56_3684+60del
ENST00000450198.6:c.3510+56_3510+60del ENSP00000392081.2:n.3510+56_3510+60del
ENST00000634760.1:c.3684+56_3684+60del ENSP00000489256.1:n.3684+56_3684+60del
ENST00000634772.1:c.62-3353_62-3349del
ENST00000634925.1:n.1175+56_1175+60del
NM_001289396.1:c.3684+56_3684+60del NP_001276325.1:n.3684+56_3684+60del
NM_001289397.1:c.3510+56_3510+60del NP_001276326.1:n.3510+56_3510+60del
NM_003070.4:c.3684+56_3684+60del NP_003061.3:n.3684+56_3684+60del
NM_139045.3:c.3684+56_3684+60del NP_620614.2:n.3684+56_3684+60del
NM_003070.5:c.3684+56_3684+60del MANE Select NP_003061.3:n.3684+56_3684+60del
NM_001289397.2:c.3510+56_3510+60del NP_001276326.1:n.3510+56_3510+60del
NM_139045.4:c.3684+56_3684+60del NP_620614.2:n.3684+56_3684+60del