Canonical Allele Identifier: CA372788936
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115961T>G , CM000671.2:g.2115961T>G GRCh38
NC_000009.11:g.2115961T>G , CM000671.1:g.2115961T>G GRCh37
NC_000009.10:g.2105961T>G NCBI36
NG_032162.1:g.105620T>G
NG_032162.2:g.140672T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3236T>G ENSP00000515861.1:p.Ile1079Ser
ENST00000704352.1:c.1174-45725T>G ENSP00000515863.1:n.1174-45725T>G
ENST00000704353.1:c.1174-45725T>G ENSP00000515864.1:n.1174-45725T>G
ENST00000704354.1:c.3580T>G
ENST00000704355.1:c.1960T>G
ENST00000349721.8:c.3596T>G MANE Select ENSP00000265773.5:p.Ile1199Ser
ENST00000357248.8:c.3596T>G ENSP00000349788.2:p.Ile1199Ser
ENST00000635739.1:n.2264T>G
ENST00000636157.1:n.1203T>G
ENST00000638139.1:n.630T>G
ENST00000349721.7:c.3596T>G ENSP00000265773.5:p.Ile1199Ser
ENST00000357248.7:c.3596T>G ENSP00000349788.2:p.Ile1199Ser
ENST00000382194.6:c.3596T>G ENSP00000371629.1:p.Ile1199Ser
ENST00000382203.5:c.3596T>G ENSP00000371638.1:p.Ile1199Ser
ENST00000450198.6:c.3422T>G ENSP00000392081.2:p.Ile1141Ser
ENST00000634760.1:c.3596T>G ENSP00000489256.1:p.Ile1199Ser
ENST00000634772.1:c.62-3497T>G
ENST00000634925.1:n.1087T>G
NM_001289396.1:c.3596T>G NP_001276325.1:p.Ile1199Ser
NM_001289397.1:c.3422T>G NP_001276326.1:p.Ile1141Ser
NM_003070.4:c.3596T>G NP_003061.3:p.Ile1199Ser
NM_139045.3:c.3596T>G NP_620614.2:p.Ile1199Ser
NM_003070.5:c.3596T>G MANE Select NP_003061.3:p.Ile1199Ser
NM_001289397.2:c.3422T>G NP_001276326.1:p.Ile1141Ser
NM_139045.4:c.3596T>G NP_620614.2:p.Ile1199Ser