Canonical Allele Identifier: CA372788814
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115908G>T , CM000671.2:g.2115908G>T GRCh38
NC_000009.11:g.2115908G>T , CM000671.1:g.2115908G>T GRCh37
NC_000009.10:g.2105908G>T NCBI36
NG_032162.1:g.105567G>T
NG_032162.2:g.140619G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3183G>T ENSP00000515861.1:p.Glu1061Asp
ENST00000704352.1:c.1174-45778G>T ENSP00000515863.1:n.1174-45778G>T
ENST00000704353.1:c.1174-45778G>T ENSP00000515864.1:n.1174-45778G>T
ENST00000704354.1:c.3527G>T
ENST00000704355.1:c.1907G>T
ENST00000349721.8:c.3543G>T MANE Select ENSP00000265773.5:p.Glu1181Asp
ENST00000357248.8:c.3543G>T ENSP00000349788.2:p.Glu1181Asp
ENST00000635739.1:n.2211G>T
ENST00000636157.1:n.1150G>T
ENST00000638139.1:n.577G>T
ENST00000349721.7:c.3543G>T ENSP00000265773.5:p.Glu1181Asp
ENST00000357248.7:c.3543G>T ENSP00000349788.2:p.Glu1181Asp
ENST00000382194.6:c.3543G>T ENSP00000371629.1:p.Glu1181Asp
ENST00000382203.5:c.3543G>T ENSP00000371638.1:p.Glu1181Asp
ENST00000450198.6:c.3369G>T ENSP00000392081.2:p.Glu1123Asp
ENST00000634760.1:c.3543G>T ENSP00000489256.1:p.Glu1181Asp
ENST00000634772.1:c.62-3550G>T
ENST00000634925.1:n.1034G>T
NM_001289396.1:c.3543G>T NP_001276325.1:p.Glu1181Asp
NM_001289397.1:c.3369G>T NP_001276326.1:p.Glu1123Asp
NM_003070.4:c.3543G>T NP_003061.3:p.Glu1181Asp
NM_139045.3:c.3543G>T NP_620614.2:p.Glu1181Asp
NM_003070.5:c.3543G>T MANE Select NP_003061.3:p.Glu1181Asp
NM_001289397.2:c.3369G>T NP_001276326.1:p.Glu1123Asp
NM_139045.4:c.3543G>T NP_620614.2:p.Glu1181Asp