Canonical Allele Identifier: CA2782667788
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116101_2116103del , CM000671.2:g.2116101_2116103del GRCh38
NC_000009.11:g.2116101_2116103del , CM000671.1:g.2116101_2116103del GRCh37
NC_000009.10:g.2106101_2106103del NCBI36
NG_032162.1:g.105760_105762del
NG_032162.2:g.140812_140814del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+52_3324+54del ENSP00000515861.1:n.3324+52_3324+54del
ENST00000704352.1:c.1174-45585_1174-45583del ENSP00000515863.1:n.1174-45585_1174-45583del
ENST00000704353.1:c.1174-45585_1174-45583del ENSP00000515864.1:n.1174-45585_1174-45583del
ENST00000704354.1:c.3668+52_3668+54del
ENST00000704355.1:c.2048+52_2048+54del
ENST00000349721.8:c.3684+52_3684+54del MANE Select ENSP00000265773.5:n.3684+52_3684+54del
ENST00000357248.8:c.3684+52_3684+54del ENSP00000349788.2:n.3684+52_3684+54del
ENST00000635739.1:n.2352+52_2352+54del
ENST00000636157.1:n.1291+52_1291+54del
ENST00000638139.1:n.718+52_718+54del
ENST00000349721.7:c.3684+52_3684+54del ENSP00000265773.5:n.3684+52_3684+54del
ENST00000357248.7:c.3684+52_3684+54del ENSP00000349788.2:n.3684+52_3684+54del
ENST00000382194.6:c.3684+52_3684+54del ENSP00000371629.1:n.3684+52_3684+54del
ENST00000382203.5:c.3684+52_3684+54del ENSP00000371638.1:n.3684+52_3684+54del
ENST00000450198.6:c.3510+52_3510+54del ENSP00000392081.2:n.3510+52_3510+54del
ENST00000634760.1:c.3684+52_3684+54del ENSP00000489256.1:n.3684+52_3684+54del
ENST00000634772.1:c.62-3357_62-3355del
ENST00000634925.1:n.1175+52_1175+54del
NM_001289396.1:c.3684+52_3684+54del NP_001276325.1:n.3684+52_3684+54del
NM_001289397.1:c.3510+52_3510+54del NP_001276326.1:n.3510+52_3510+54del
NM_003070.4:c.3684+52_3684+54del NP_003061.3:n.3684+52_3684+54del
NM_139045.3:c.3684+52_3684+54del NP_620614.2:n.3684+52_3684+54del
NM_003070.5:c.3684+52_3684+54del MANE Select NP_003061.3:n.3684+52_3684+54del
NM_001289397.2:c.3510+52_3510+54del NP_001276326.1:n.3510+52_3510+54del
NM_139045.4:c.3684+52_3684+54del NP_620614.2:n.3684+52_3684+54del