Canonical Allele Identifier: CA372792699
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2191326G>T , CM000671.2:g.2191326G>T GRCh38
NC_000009.11:g.2191326G>T , CM000671.1:g.2191326G>T GRCh37
NC_000009.10:g.2181326G>T NCBI36
NG_032162.1:g.180985G>T
NG_032162.2:g.216037G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.4241G>T ENSP00000515861.1:p.Gly1414Val
ENST00000704352.1:c.1793G>T ENSP00000515863.1:p.Gly598Val
ENST00000704353.1:c.1847G>T ENSP00000515864.1:p.Gly616Val
ENST00000704354.1:c.4585G>T
ENST00000704355.1:c.2965G>T
ENST00000349721.8:c.4655G>T MANE Select ENSP00000265773.5:p.Gly1552Val
ENST00000357248.8:c.4601G>T ENSP00000349788.2:p.Gly1534Val
ENST00000635739.1:n.3269G>T
ENST00000636157.1:n.2208G>T
ENST00000636367.1:c.*451G>T ENSP00000489942.1:n.*451G>T
ENST00000638139.1:n.1689G>T
ENST00000639760.2:c.708G>T
ENST00000302401.8:c.719G>T ENSP00000305411.3:p.Gly240Val
ENST00000324954.10:c.629G>T ENSP00000324770.6:p.Gly210Val
ENST00000349721.7:c.4655G>T ENSP00000265773.5:p.Gly1552Val
ENST00000357248.7:c.4601G>T ENSP00000349788.2:p.Gly1534Val
ENST00000382183.6:c.593G>T ENSP00000371618.1:p.Gly198Val
ENST00000382185.6:c.713G>T ENSP00000371620.2:p.Gly238Val
ENST00000382186.6:c.647G>T ENSP00000371621.1:p.Gly216Val
ENST00000382194.6:c.4601G>T ENSP00000371629.1:p.Gly1534Val
ENST00000382203.5:c.4655G>T ENSP00000371638.1:p.Gly1552Val
ENST00000417599.6:c.713G>T ENSP00000387486.2:p.Gly238Val
ENST00000450198.6:c.4427G>T ENSP00000392081.2:p.Gly1476Val
ENST00000634760.1:c.*262G>T ENSP00000489256.1:n.*262G>T
ENST00000634781.1:c.665G>T ENSP00000489302.1:p.Gly222Val
ENST00000634931.1:c.647G>T ENSP00000489433.1:p.Gly216Val
ENST00000634989.1:c.*451G>T ENSP00000489100.1:n.*451G>T
ENST00000635273.1:n.497G>T
ENST00000635388.1:c.593G>T ENSP00000489271.1:p.Gly198Val
ENST00000635590.1:c.*451G>T ENSP00000489587.1:n.*451G>T
ENST00000635659.1:c.746G>T
NM_001289396.1:c.4655G>T NP_001276325.1:p.Gly1552Val
NM_001289397.1:c.4427G>T NP_001276326.1:p.Gly1476Val
NM_001289398.1:c.629G>T NP_001276327.1:p.Gly210Val
NM_001289399.1:c.713G>T NP_001276328.1:p.Gly238Val
NM_001289400.1:c.719G>T NP_001276329.1:p.Gly240Val
NM_003070.4:c.4655G>T NP_003061.3:p.Gly1552Val
NM_139045.3:c.4601G>T NP_620614.2:p.Gly1534Val
XR_001746600.1:n.1362-10304C>A
XR_001746601.1:n.1316-10304C>A
NM_003070.5:c.4655G>T MANE Select NP_003061.3:p.Gly1552Val
NM_001289397.2:c.4427G>T NP_001276326.1:p.Gly1476Val
NM_001289398.2:c.629G>T NP_001276327.1:p.Gly210Val
NM_139045.4:c.4601G>T NP_620614.2:p.Gly1534Val