Canonical Allele Identifier: CA2782667778
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116080_2116082del , CM000671.2:g.2116080_2116082del GRCh38
NC_000009.11:g.2116080_2116082del , CM000671.1:g.2116080_2116082del GRCh37
NC_000009.10:g.2106080_2106082del NCBI36
NG_032162.1:g.105739_105741del
NG_032162.2:g.140791_140793del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3324+31_3324+33del ENSP00000515861.1:n.3324+31_3324+33del
ENST00000704352.1:c.1174-45606_1174-45604del ENSP00000515863.1:n.1174-45606_1174-45604del
ENST00000704353.1:c.1174-45606_1174-45604del ENSP00000515864.1:n.1174-45606_1174-45604del
ENST00000704354.1:c.3668+31_3668+33del
ENST00000704355.1:c.2048+31_2048+33del
ENST00000349721.8:c.3684+31_3684+33del MANE Select ENSP00000265773.5:n.3684+31_3684+33del
ENST00000357248.8:c.3684+31_3684+33del ENSP00000349788.2:n.3684+31_3684+33del
ENST00000635739.1:n.2352+31_2352+33del
ENST00000636157.1:n.1291+31_1291+33del
ENST00000638139.1:n.718+31_718+33del
ENST00000349721.7:c.3684+31_3684+33del ENSP00000265773.5:n.3684+31_3684+33del
ENST00000357248.7:c.3684+31_3684+33del ENSP00000349788.2:n.3684+31_3684+33del
ENST00000382194.6:c.3684+31_3684+33del ENSP00000371629.1:n.3684+31_3684+33del
ENST00000382203.5:c.3684+31_3684+33del ENSP00000371638.1:n.3684+31_3684+33del
ENST00000450198.6:c.3510+31_3510+33del ENSP00000392081.2:n.3510+31_3510+33del
ENST00000634760.1:c.3684+31_3684+33del ENSP00000489256.1:n.3684+31_3684+33del
ENST00000634772.1:c.62-3378_62-3376del
ENST00000634925.1:n.1175+31_1175+33del
NM_001289396.1:c.3684+31_3684+33del NP_001276325.1:n.3684+31_3684+33del
NM_001289397.1:c.3510+31_3510+33del NP_001276326.1:n.3510+31_3510+33del
NM_003070.4:c.3684+31_3684+33del NP_003061.3:n.3684+31_3684+33del
NM_139045.3:c.3684+31_3684+33del NP_620614.2:n.3684+31_3684+33del
NM_003070.5:c.3684+31_3684+33del MANE Select NP_003061.3:n.3684+31_3684+33del
NM_001289397.2:c.3510+31_3510+33del NP_001276326.1:n.3510+31_3510+33del
NM_139045.4:c.3684+31_3684+33del NP_620614.2:n.3684+31_3684+33del