Canonical Allele Identifier: CA2782667791
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116106_2116108del , CM000671.2:g.2116106_2116108del GRCh38
NC_000009.11:g.2116106_2116108del , CM000671.1:g.2116106_2116108del GRCh37
NC_000009.10:g.2106106_2106108del NCBI36
NG_032162.1:g.105765_105767del
NG_032162.2:g.140817_140819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+57_3324+59del ENSP00000515861.1:n.3324+57_3324+59del
ENST00000704352.1:c.1174-45580_1174-45578del ENSP00000515863.1:n.1174-45580_1174-45578del
ENST00000704353.1:c.1174-45580_1174-45578del ENSP00000515864.1:n.1174-45580_1174-45578del
ENST00000704354.1:c.3668+57_3668+59del
ENST00000704355.1:c.2048+57_2048+59del
ENST00000349721.8:c.3684+57_3684+59del MANE Select ENSP00000265773.5:n.3684+57_3684+59del
ENST00000357248.8:c.3684+57_3684+59del ENSP00000349788.2:n.3684+57_3684+59del
ENST00000635739.1:n.2352+57_2352+59del
ENST00000636157.1:n.1291+57_1291+59del
ENST00000638139.1:n.718+57_718+59del
ENST00000349721.7:c.3684+57_3684+59del ENSP00000265773.5:n.3684+57_3684+59del
ENST00000357248.7:c.3684+57_3684+59del ENSP00000349788.2:n.3684+57_3684+59del
ENST00000382194.6:c.3684+57_3684+59del ENSP00000371629.1:n.3684+57_3684+59del
ENST00000382203.5:c.3684+57_3684+59del ENSP00000371638.1:n.3684+57_3684+59del
ENST00000450198.6:c.3510+57_3510+59del ENSP00000392081.2:n.3510+57_3510+59del
ENST00000634760.1:c.3684+57_3684+59del ENSP00000489256.1:n.3684+57_3684+59del
ENST00000634772.1:c.62-3352_62-3350del
ENST00000634925.1:n.1175+57_1175+59del
NM_001289396.1:c.3684+57_3684+59del NP_001276325.1:n.3684+57_3684+59del
NM_001289397.1:c.3510+57_3510+59del NP_001276326.1:n.3510+57_3510+59del
NM_003070.4:c.3684+57_3684+59del NP_003061.3:n.3684+57_3684+59del
NM_139045.3:c.3684+57_3684+59del NP_620614.2:n.3684+57_3684+59del
NM_003070.5:c.3684+57_3684+59del MANE Select NP_003061.3:n.3684+57_3684+59del
NM_001289397.2:c.3510+57_3510+59del NP_001276326.1:n.3510+57_3510+59del
NM_139045.4:c.3684+57_3684+59del NP_620614.2:n.3684+57_3684+59del