Canonical Allele Identifier: CA463711868

Gene: SMARCA2

Linked Data

• dbSNP Id: rs149931024
• gnomAD v2: 9-2191330-A-G
• gnomAD v4: 9-2191330-A-G
• MyVariant Identifiers: chr9:g.2191330A>G (hg19) ; chr9:g.2191330A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2191330A>G , CM000671.2:g.2191330A>G	GRCh38
NC_000009.11:g.2191330A>G , CM000671.1:g.2191330A>G	GRCh37
NC_000009.10:g.2181330A>G	NCBI36
NG_032162.1:g.180989A>G
NG_032162.2:g.216041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.4245A>G	ENSP00000515861.1:p.Lys1415=
ENST00000704352.1:c.1797A>G	ENSP00000515863.1:p.Lys599=
ENST00000704353.1:c.1851A>G	ENSP00000515864.1:p.Lys617=
ENST00000704354.1:c.4589A>G
ENST00000704355.1:c.2969A>G
ENST00000349721.8:c.4659A>G MANE Select	ENSP00000265773.5:p.Lys1553=
ENST00000357248.8:c.4605A>G	ENSP00000349788.2:p.Lys1535=
ENST00000635739.1:n.3273A>G
ENST00000636157.1:n.2212A>G
ENST00000636367.1:c.*455A>G	ENSP00000489942.1:n.*455A>G
ENST00000638139.1:n.1693A>G
ENST00000639760.2:c.712A>G
ENST00000302401.8:c.723A>G	ENSP00000305411.3:p.Lys241=
ENST00000324954.10:c.633A>G	ENSP00000324770.6:p.Lys211=
ENST00000349721.7:c.4659A>G	ENSP00000265773.5:p.Lys1553=
ENST00000357248.7:c.4605A>G	ENSP00000349788.2:p.Lys1535=
ENST00000382183.6:c.597A>G	ENSP00000371618.1:p.Lys199=
ENST00000382185.6:c.717A>G	ENSP00000371620.2:p.Lys239=
ENST00000382186.6:c.651A>G	ENSP00000371621.1:p.Lys217=
ENST00000382194.6:c.4605A>G	ENSP00000371629.1:p.Lys1535=
ENST00000382203.5:c.4659A>G	ENSP00000371638.1:p.Lys1553=
ENST00000417599.6:c.717A>G	ENSP00000387486.2:p.Lys239=
ENST00000450198.6:c.4431A>G	ENSP00000392081.2:p.Lys1477=
ENST00000634760.1:c.*266A>G	ENSP00000489256.1:n.*266A>G
ENST00000634781.1:c.669A>G	ENSP00000489302.1:p.Lys223=
ENST00000634931.1:c.651A>G	ENSP00000489433.1:p.Lys217=
ENST00000634989.1:c.*455A>G	ENSP00000489100.1:n.*455A>G
ENST00000635273.1:n.501A>G
ENST00000635388.1:c.597A>G	ENSP00000489271.1:p.Lys199=
ENST00000635590.1:c.*455A>G	ENSP00000489587.1:n.*455A>G
ENST00000635659.1:c.750A>G
NM_001289396.1:c.4659A>G	NP_001276325.1:p.Lys1553=
NM_001289397.1:c.4431A>G	NP_001276326.1:p.Lys1477=
NM_001289398.1:c.633A>G	NP_001276327.1:p.Lys211=
NM_001289399.1:c.717A>G	NP_001276328.1:p.Lys239=
NM_001289400.1:c.723A>G	NP_001276329.1:p.Lys241=
NM_003070.4:c.4659A>G	NP_003061.3:p.Lys1553=
NM_139045.3:c.4605A>G	NP_620614.2:p.Lys1535=
XR_001746600.1:n.1362-10308T>C
XR_001746601.1:n.1316-10308T>C
NM_003070.5:c.4659A>G MANE Select	NP_003061.3:p.Lys1553=
NM_001289397.2:c.4431A>G	NP_001276326.1:p.Lys1477=
NM_001289398.2:c.633A>G	NP_001276327.1:p.Lys211=
NM_139045.4:c.4605A>G	NP_620614.2:p.Lys1535=