Canonical Allele Identifier: CA2782667800
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116121_2116128del , CM000671.2:g.2116121_2116128del GRCh38
NC_000009.11:g.2116121_2116128del , CM000671.1:g.2116121_2116128del GRCh37
NC_000009.10:g.2106121_2106128del NCBI36
NG_032162.1:g.105780_105787del
NG_032162.2:g.140832_140839del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+72_3324+79del ENSP00000515861.1:n.3324+72_3324+79del
ENST00000704352.1:c.1174-45565_1174-45558del ENSP00000515863.1:n.1174-45565_1174-45558del
ENST00000704353.1:c.1174-45565_1174-45558del ENSP00000515864.1:n.1174-45565_1174-45558del
ENST00000704354.1:c.3668+72_3668+79del
ENST00000704355.1:c.2048+72_2048+79del
ENST00000349721.8:c.3684+72_3684+79del MANE Select ENSP00000265773.5:n.3684+72_3684+79del
ENST00000357248.8:c.3684+72_3684+79del ENSP00000349788.2:n.3684+72_3684+79del
ENST00000635739.1:n.2352+72_2352+79del
ENST00000636157.1:n.1291+72_1291+79del
ENST00000638139.1:n.718+72_718+79del
ENST00000349721.7:c.3684+72_3684+79del ENSP00000265773.5:n.3684+72_3684+79del
ENST00000357248.7:c.3684+72_3684+79del ENSP00000349788.2:n.3684+72_3684+79del
ENST00000382194.6:c.3684+72_3684+79del ENSP00000371629.1:n.3684+72_3684+79del
ENST00000382203.5:c.3684+72_3684+79del ENSP00000371638.1:n.3684+72_3684+79del
ENST00000450198.6:c.3510+72_3510+79del ENSP00000392081.2:n.3510+72_3510+79del
ENST00000634760.1:c.3684+72_3684+79del ENSP00000489256.1:n.3684+72_3684+79del
ENST00000634772.1:c.62-3337_62-3330del
ENST00000634925.1:n.1175+72_1175+79del
NM_001289396.1:c.3684+72_3684+79del NP_001276325.1:n.3684+72_3684+79del
NM_001289397.1:c.3510+72_3510+79del NP_001276326.1:n.3510+72_3510+79del
NM_003070.4:c.3684+72_3684+79del NP_003061.3:n.3684+72_3684+79del
NM_139045.3:c.3684+72_3684+79del NP_620614.2:n.3684+72_3684+79del
NM_003070.5:c.3684+72_3684+79del MANE Select NP_003061.3:n.3684+72_3684+79del
NM_001289397.2:c.3510+72_3510+79del NP_001276326.1:n.3510+72_3510+79del
NM_139045.4:c.3684+72_3684+79del NP_620614.2:n.3684+72_3684+79del