Canonical Allele Identifier: CA372788998
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115987T>G , CM000671.2:g.2115987T>G GRCh38
NC_000009.11:g.2115987T>G , CM000671.1:g.2115987T>G GRCh37
NC_000009.10:g.2105987T>G NCBI36
NG_032162.1:g.105646T>G
NG_032162.2:g.140698T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3262T>G ENSP00000515861.1:p.Ser1088Ala
ENST00000704352.1:c.1174-45699T>G ENSP00000515863.1:n.1174-45699T>G
ENST00000704353.1:c.1174-45699T>G ENSP00000515864.1:n.1174-45699T>G
ENST00000704354.1:c.3606T>G
ENST00000704355.1:c.1986T>G
ENST00000349721.8:c.3622T>G MANE Select ENSP00000265773.5:p.Ser1208Ala
ENST00000357248.8:c.3622T>G ENSP00000349788.2:p.Ser1208Ala
ENST00000635739.1:n.2290T>G
ENST00000636157.1:n.1229T>G
ENST00000638139.1:n.656T>G
ENST00000349721.7:c.3622T>G ENSP00000265773.5:p.Ser1208Ala
ENST00000357248.7:c.3622T>G ENSP00000349788.2:p.Ser1208Ala
ENST00000382194.6:c.3622T>G ENSP00000371629.1:p.Ser1208Ala
ENST00000382203.5:c.3622T>G ENSP00000371638.1:p.Ser1208Ala
ENST00000450198.6:c.3448T>G ENSP00000392081.2:p.Ser1150Ala
ENST00000634760.1:c.3622T>G ENSP00000489256.1:p.Ser1208Ala
ENST00000634772.1:c.62-3471T>G
ENST00000634925.1:n.1113T>G
NM_001289396.1:c.3622T>G NP_001276325.1:p.Ser1208Ala
NM_001289397.1:c.3448T>G NP_001276326.1:p.Ser1150Ala
NM_003070.4:c.3622T>G NP_003061.3:p.Ser1208Ala
NM_139045.3:c.3622T>G NP_620614.2:p.Ser1208Ala
NM_003070.5:c.3622T>G MANE Select NP_003061.3:p.Ser1208Ala
NM_001289397.2:c.3448T>G NP_001276326.1:p.Ser1150Ala
NM_139045.4:c.3622T>G NP_620614.2:p.Ser1208Ala