Canonical Allele Identifier: CA918396570
Gene: SMARCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1586721870

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116247_2116248del , CM000671.2:g.2116247_2116248del GRCh38
NC_000009.11:g.2116247_2116248del , CM000671.1:g.2116247_2116248del GRCh37
NC_000009.10:g.2106247_2106248del NCBI36
NG_032162.1:g.105906_105907del
NG_032162.2:g.140958_140959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+198_3324+199del ENSP00000515861.1:n.3324+198_3324+199del
ENST00000704352.1:c.1174-45439_1174-45438del ENSP00000515863.1:n.1174-45439_1174-45438del
ENST00000704353.1:c.1174-45439_1174-45438del ENSP00000515864.1:n.1174-45439_1174-45438del
ENST00000704354.1:c.3668+198_3668+199del
ENST00000704355.1:c.2048+198_2048+199del
ENST00000349721.8:c.3684+198_3684+199del MANE Select ENSP00000265773.5:n.3684+198_3684+199del
ENST00000357248.8:c.3684+198_3684+199del ENSP00000349788.2:n.3684+198_3684+199del
ENST00000635739.1:n.2352+198_2352+199del
ENST00000636157.1:n.1291+198_1291+199del
ENST00000638139.1:n.718+198_718+199del
ENST00000349721.7:c.3684+198_3684+199del ENSP00000265773.5:n.3684+198_3684+199del
ENST00000357248.7:c.3684+198_3684+199del ENSP00000349788.2:n.3684+198_3684+199del
ENST00000382194.6:c.3684+198_3684+199del ENSP00000371629.1:n.3684+198_3684+199del
ENST00000382203.5:c.3684+198_3684+199del ENSP00000371638.1:n.3684+198_3684+199del
ENST00000450198.6:c.3510+198_3510+199del ENSP00000392081.2:n.3510+198_3510+199del
ENST00000634760.1:c.3684+198_3684+199del ENSP00000489256.1:n.3684+198_3684+199del
ENST00000634772.1:c.62-3211_62-3210del
ENST00000634925.1:n.1175+198_1175+199del
NM_001289396.1:c.3684+198_3684+199del NP_001276325.1:n.3684+198_3684+199del
NM_001289397.1:c.3510+198_3510+199del NP_001276326.1:n.3510+198_3510+199del
NM_003070.4:c.3684+198_3684+199del NP_003061.3:n.3684+198_3684+199del
NM_139045.3:c.3684+198_3684+199del NP_620614.2:n.3684+198_3684+199del
NM_003070.5:c.3684+198_3684+199del MANE Select NP_003061.3:n.3684+198_3684+199del
NM_001289397.2:c.3510+198_3510+199del NP_001276326.1:n.3510+198_3510+199del
NM_139045.4:c.3684+198_3684+199del NP_620614.2:n.3684+198_3684+199del