Canonical Allele Identifier: CA372788670
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115850G>C , CM000671.2:g.2115850G>C GRCh38
NC_000009.11:g.2115850G>C , CM000671.1:g.2115850G>C GRCh37
NC_000009.10:g.2105850G>C NCBI36
NG_032162.1:g.105509G>C
NG_032162.2:g.140561G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3125G>C ENSP00000515861.1:p.Arg1042Pro
ENST00000704352.1:c.1174-45836G>C ENSP00000515863.1:n.1174-45836G>C
ENST00000704353.1:c.1174-45836G>C ENSP00000515864.1:n.1174-45836G>C
ENST00000704354.1:c.3469G>C
ENST00000704355.1:c.1849G>C
ENST00000349721.8:c.3485G>C MANE Select ENSP00000265773.5:p.Arg1162Pro
ENST00000357248.8:c.3485G>C ENSP00000349788.2:p.Arg1162Pro
ENST00000635739.1:n.2153G>C
ENST00000636157.1:n.1092G>C
ENST00000638139.1:n.519G>C
ENST00000349721.7:c.3485G>C ENSP00000265773.5:p.Arg1162Pro
ENST00000357248.7:c.3485G>C ENSP00000349788.2:p.Arg1162Pro
ENST00000382194.6:c.3485G>C ENSP00000371629.1:p.Arg1162Pro
ENST00000382203.5:c.3485G>C ENSP00000371638.1:p.Arg1162Pro
ENST00000450198.6:c.3311G>C ENSP00000392081.2:p.Arg1104Pro
ENST00000634760.1:c.3485G>C ENSP00000489256.1:p.Arg1162Pro
ENST00000634772.1:c.62-3608G>C
ENST00000634925.1:n.976G>C
NM_001289396.1:c.3485G>C NP_001276325.1:p.Arg1162Pro
NM_001289397.1:c.3311G>C NP_001276326.1:p.Arg1104Pro
NM_003070.4:c.3485G>C NP_003061.3:p.Arg1162Pro
NM_139045.3:c.3485G>C NP_620614.2:p.Arg1162Pro
NM_003070.5:c.3485G>C MANE Select NP_003061.3:p.Arg1162Pro
NM_001289397.2:c.3311G>C NP_001276326.1:p.Arg1104Pro
NM_139045.4:c.3485G>C NP_620614.2:p.Arg1162Pro