Canonical Allele Identifier: CA372788748
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115877T>C , CM000671.2:g.2115877T>C GRCh38
NC_000009.11:g.2115877T>C , CM000671.1:g.2115877T>C GRCh37
NC_000009.10:g.2105877T>C NCBI36
NG_032162.1:g.105536T>C
NG_032162.2:g.140588T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3152T>C ENSP00000515861.1:p.Val1051Ala
ENST00000704352.1:c.1174-45809T>C ENSP00000515863.1:n.1174-45809T>C
ENST00000704353.1:c.1174-45809T>C ENSP00000515864.1:n.1174-45809T>C
ENST00000704354.1:c.3496T>C
ENST00000704355.1:c.1876T>C
ENST00000349721.8:c.3512T>C MANE Select ENSP00000265773.5:p.Val1171Ala
ENST00000357248.8:c.3512T>C ENSP00000349788.2:p.Val1171Ala
ENST00000635739.1:n.2180T>C
ENST00000636157.1:n.1119T>C
ENST00000638139.1:n.546T>C
ENST00000349721.7:c.3512T>C ENSP00000265773.5:p.Val1171Ala
ENST00000357248.7:c.3512T>C ENSP00000349788.2:p.Val1171Ala
ENST00000382194.6:c.3512T>C ENSP00000371629.1:p.Val1171Ala
ENST00000382203.5:c.3512T>C ENSP00000371638.1:p.Val1171Ala
ENST00000450198.6:c.3338T>C ENSP00000392081.2:p.Val1113Ala
ENST00000634760.1:c.3512T>C ENSP00000489256.1:p.Val1171Ala
ENST00000634772.1:c.62-3581T>C
ENST00000634925.1:n.1003T>C
NM_001289396.1:c.3512T>C NP_001276325.1:p.Val1171Ala
NM_001289397.1:c.3338T>C NP_001276326.1:p.Val1113Ala
NM_003070.4:c.3512T>C NP_003061.3:p.Val1171Ala
NM_139045.3:c.3512T>C NP_620614.2:p.Val1171Ala
NM_003070.5:c.3512T>C MANE Select NP_003061.3:p.Val1171Ala
NM_001289397.2:c.3338T>C NP_001276326.1:p.Val1113Ala
NM_139045.4:c.3512T>C NP_620614.2:p.Val1171Ala