Canonical Allele Identifier: CA372788828
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115913A>G , CM000671.2:g.2115913A>G GRCh38
NC_000009.11:g.2115913A>G , CM000671.1:g.2115913A>G GRCh37
NC_000009.10:g.2105913A>G NCBI36
NG_032162.1:g.105572A>G
NG_032162.2:g.140624A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3188A>G ENSP00000515861.1:p.Lys1063Arg
ENST00000704352.1:c.1174-45773A>G ENSP00000515863.1:n.1174-45773A>G
ENST00000704353.1:c.1174-45773A>G ENSP00000515864.1:n.1174-45773A>G
ENST00000704354.1:c.3532A>G
ENST00000704355.1:c.1912A>G
ENST00000349721.8:c.3548A>G MANE Select ENSP00000265773.5:p.Lys1183Arg
ENST00000357248.8:c.3548A>G ENSP00000349788.2:p.Lys1183Arg
ENST00000635739.1:n.2216A>G
ENST00000636157.1:n.1155A>G
ENST00000638139.1:n.582A>G
ENST00000349721.7:c.3548A>G ENSP00000265773.5:p.Lys1183Arg
ENST00000357248.7:c.3548A>G ENSP00000349788.2:p.Lys1183Arg
ENST00000382194.6:c.3548A>G ENSP00000371629.1:p.Lys1183Arg
ENST00000382203.5:c.3548A>G ENSP00000371638.1:p.Lys1183Arg
ENST00000450198.6:c.3374A>G ENSP00000392081.2:p.Lys1125Arg
ENST00000634760.1:c.3548A>G ENSP00000489256.1:p.Lys1183Arg
ENST00000634772.1:c.62-3545A>G
ENST00000634925.1:n.1039A>G
NM_001289396.1:c.3548A>G NP_001276325.1:p.Lys1183Arg
NM_001289397.1:c.3374A>G NP_001276326.1:p.Lys1125Arg
NM_003070.4:c.3548A>G NP_003061.3:p.Lys1183Arg
NM_139045.3:c.3548A>G NP_620614.2:p.Lys1183Arg
NM_003070.5:c.3548A>G MANE Select NP_003061.3:p.Lys1183Arg
NM_001289397.2:c.3374A>G NP_001276326.1:p.Lys1125Arg
NM_139045.4:c.3548A>G NP_620614.2:p.Lys1183Arg