Canonical Allele Identifier: CA2782667775
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116054_2116059del , CM000671.2:g.2116054_2116059del GRCh38
NC_000009.11:g.2116054_2116059del , CM000671.1:g.2116054_2116059del GRCh37
NC_000009.10:g.2106054_2106059del NCBI36
NG_032162.1:g.105713_105718del
NG_032162.2:g.140765_140770del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+5_3324+10del ENSP00000515861.1:n.3324+5_3324+10del
ENST00000704352.1:c.1174-45632_1174-45627del ENSP00000515863.1:n.1174-45632_1174-45627del
ENST00000704353.1:c.1174-45632_1174-45627del ENSP00000515864.1:n.1174-45632_1174-45627del
ENST00000704354.1:c.3668+5_3668+10del
ENST00000704355.1:c.2048+5_2048+10del
ENST00000349721.8:c.3684+5_3684+10del MANE Select ENSP00000265773.5:n.3684+5_3684+10del
ENST00000357248.8:c.3684+5_3684+10del ENSP00000349788.2:n.3684+5_3684+10del
ENST00000635739.1:n.2352+5_2352+10del
ENST00000636157.1:n.1291+5_1291+10del
ENST00000638139.1:n.718+5_718+10del
ENST00000349721.7:c.3684+5_3684+10del ENSP00000265773.5:n.3684+5_3684+10del
ENST00000357248.7:c.3684+5_3684+10del ENSP00000349788.2:n.3684+5_3684+10del
ENST00000382194.6:c.3684+5_3684+10del ENSP00000371629.1:n.3684+5_3684+10del
ENST00000382203.5:c.3684+5_3684+10del ENSP00000371638.1:n.3684+5_3684+10del
ENST00000450198.6:c.3510+5_3510+10del ENSP00000392081.2:n.3510+5_3510+10del
ENST00000634760.1:c.3684+5_3684+10del ENSP00000489256.1:n.3684+5_3684+10del
ENST00000634772.1:c.62-3404_62-3399del
ENST00000634925.1:n.1175+5_1175+10del
NM_001289396.1:c.3684+5_3684+10del NP_001276325.1:n.3684+5_3684+10del
NM_001289397.1:c.3510+5_3510+10del NP_001276326.1:n.3510+5_3510+10del
NM_003070.4:c.3684+5_3684+10del NP_003061.3:n.3684+5_3684+10del
NM_139045.3:c.3684+5_3684+10del NP_620614.2:n.3684+5_3684+10del
NM_003070.5:c.3684+5_3684+10del MANE Select NP_003061.3:n.3684+5_3684+10del
NM_001289397.2:c.3510+5_3510+10del NP_001276326.1:n.3510+5_3510+10del
NM_139045.4:c.3684+5_3684+10del NP_620614.2:n.3684+5_3684+10del