Canonical Allele Identifier: CA2782667796
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116112_2116113del , CM000671.2:g.2116112_2116113del GRCh38
NC_000009.11:g.2116112_2116113del , CM000671.1:g.2116112_2116113del GRCh37
NC_000009.10:g.2106112_2106113del NCBI36
NG_032162.1:g.105771_105772del
NG_032162.2:g.140823_140824del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+63_3324+64del ENSP00000515861.1:n.3324+63_3324+64del
ENST00000704352.1:c.1174-45574_1174-45573del ENSP00000515863.1:n.1174-45574_1174-45573del
ENST00000704353.1:c.1174-45574_1174-45573del ENSP00000515864.1:n.1174-45574_1174-45573del
ENST00000704354.1:c.3668+63_3668+64del
ENST00000704355.1:c.2048+63_2048+64del
ENST00000349721.8:c.3684+63_3684+64del MANE Select ENSP00000265773.5:n.3684+63_3684+64del
ENST00000357248.8:c.3684+63_3684+64del ENSP00000349788.2:n.3684+63_3684+64del
ENST00000635739.1:n.2352+63_2352+64del
ENST00000636157.1:n.1291+63_1291+64del
ENST00000638139.1:n.718+63_718+64del
ENST00000349721.7:c.3684+63_3684+64del ENSP00000265773.5:n.3684+63_3684+64del
ENST00000357248.7:c.3684+63_3684+64del ENSP00000349788.2:n.3684+63_3684+64del
ENST00000382194.6:c.3684+63_3684+64del ENSP00000371629.1:n.3684+63_3684+64del
ENST00000382203.5:c.3684+63_3684+64del ENSP00000371638.1:n.3684+63_3684+64del
ENST00000450198.6:c.3510+63_3510+64del ENSP00000392081.2:n.3510+63_3510+64del
ENST00000634760.1:c.3684+63_3684+64del ENSP00000489256.1:n.3684+63_3684+64del
ENST00000634772.1:c.62-3346_62-3345del
ENST00000634925.1:n.1175+63_1175+64del
NM_001289396.1:c.3684+63_3684+64del NP_001276325.1:n.3684+63_3684+64del
NM_001289397.1:c.3510+63_3510+64del NP_001276326.1:n.3510+63_3510+64del
NM_003070.4:c.3684+63_3684+64del NP_003061.3:n.3684+63_3684+64del
NM_139045.3:c.3684+63_3684+64del NP_620614.2:n.3684+63_3684+64del
NM_003070.5:c.3684+63_3684+64del MANE Select NP_003061.3:n.3684+63_3684+64del
NM_001289397.2:c.3510+63_3510+64del NP_001276326.1:n.3510+63_3510+64del
NM_139045.4:c.3684+63_3684+64del NP_620614.2:n.3684+63_3684+64del