Canonical Allele Identifier: CA372788844
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115921G>A , CM000671.2:g.2115921G>A GRCh38
NC_000009.11:g.2115921G>A , CM000671.1:g.2115921G>A GRCh37
NC_000009.10:g.2105921G>A NCBI36
NG_032162.1:g.105580G>A
NG_032162.2:g.140632G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3196G>A ENSP00000515861.1:p.Ala1066Thr
ENST00000704352.1:c.1174-45765G>A ENSP00000515863.1:n.1174-45765G>A
ENST00000704353.1:c.1174-45765G>A ENSP00000515864.1:n.1174-45765G>A
ENST00000704354.1:c.3540G>A
ENST00000704355.1:c.1920G>A
ENST00000349721.8:c.3556G>A MANE Select ENSP00000265773.5:p.Ala1186Thr
ENST00000357248.8:c.3556G>A ENSP00000349788.2:p.Ala1186Thr
ENST00000635739.1:n.2224G>A
ENST00000636157.1:n.1163G>A
ENST00000638139.1:n.590G>A
ENST00000349721.7:c.3556G>A ENSP00000265773.5:p.Ala1186Thr
ENST00000357248.7:c.3556G>A ENSP00000349788.2:p.Ala1186Thr
ENST00000382194.6:c.3556G>A ENSP00000371629.1:p.Ala1186Thr
ENST00000382203.5:c.3556G>A ENSP00000371638.1:p.Ala1186Thr
ENST00000450198.6:c.3382G>A ENSP00000392081.2:p.Ala1128Thr
ENST00000634760.1:c.3556G>A ENSP00000489256.1:p.Ala1186Thr
ENST00000634772.1:c.62-3537G>A
ENST00000634925.1:n.1047G>A
NM_001289396.1:c.3556G>A NP_001276325.1:p.Ala1186Thr
NM_001289397.1:c.3382G>A NP_001276326.1:p.Ala1128Thr
NM_003070.4:c.3556G>A NP_003061.3:p.Ala1186Thr
NM_139045.3:c.3556G>A NP_620614.2:p.Ala1186Thr
NM_003070.5:c.3556G>A MANE Select NP_003061.3:p.Ala1186Thr
NM_001289397.2:c.3382G>A NP_001276326.1:p.Ala1128Thr
NM_139045.4:c.3556G>A NP_620614.2:p.Ala1186Thr