Canonical Allele Identifier: CA372792695
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2191325G>C , CM000671.2:g.2191325G>C GRCh38
NC_000009.11:g.2191325G>C , CM000671.1:g.2191325G>C GRCh37
NC_000009.10:g.2181325G>C NCBI36
NG_032162.1:g.180984G>C
NG_032162.2:g.216036G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.4240G>C ENSP00000515861.1:p.Gly1414Arg
ENST00000704352.1:c.1792G>C ENSP00000515863.1:p.Gly598Arg
ENST00000704353.1:c.1846G>C ENSP00000515864.1:p.Gly616Arg
ENST00000704354.1:c.4584G>C
ENST00000704355.1:c.2964G>C
ENST00000349721.8:c.4654G>C MANE Select ENSP00000265773.5:p.Gly1552Arg
ENST00000357248.8:c.4600G>C ENSP00000349788.2:p.Gly1534Arg
ENST00000635739.1:n.3268G>C
ENST00000636157.1:n.2207G>C
ENST00000636367.1:c.*450G>C ENSP00000489942.1:n.*450G>C
ENST00000638139.1:n.1688G>C
ENST00000639760.2:c.707G>C
ENST00000302401.8:c.718G>C ENSP00000305411.3:p.Gly240Arg
ENST00000324954.10:c.628G>C ENSP00000324770.6:p.Gly210Arg
ENST00000349721.7:c.4654G>C ENSP00000265773.5:p.Gly1552Arg
ENST00000357248.7:c.4600G>C ENSP00000349788.2:p.Gly1534Arg
ENST00000382183.6:c.592G>C ENSP00000371618.1:p.Gly198Arg
ENST00000382185.6:c.712G>C ENSP00000371620.2:p.Gly238Arg
ENST00000382186.6:c.646G>C ENSP00000371621.1:p.Gly216Arg
ENST00000382194.6:c.4600G>C ENSP00000371629.1:p.Gly1534Arg
ENST00000382203.5:c.4654G>C ENSP00000371638.1:p.Gly1552Arg
ENST00000417599.6:c.712G>C ENSP00000387486.2:p.Gly238Arg
ENST00000450198.6:c.4426G>C ENSP00000392081.2:p.Gly1476Arg
ENST00000634760.1:c.*261G>C ENSP00000489256.1:n.*261G>C
ENST00000634781.1:c.664G>C ENSP00000489302.1:p.Gly222Arg
ENST00000634931.1:c.646G>C ENSP00000489433.1:p.Gly216Arg
ENST00000634989.1:c.*450G>C ENSP00000489100.1:n.*450G>C
ENST00000635273.1:n.496G>C
ENST00000635388.1:c.592G>C ENSP00000489271.1:p.Gly198Arg
ENST00000635590.1:c.*450G>C ENSP00000489587.1:n.*450G>C
ENST00000635659.1:c.745G>C
NM_001289396.1:c.4654G>C NP_001276325.1:p.Gly1552Arg
NM_001289397.1:c.4426G>C NP_001276326.1:p.Gly1476Arg
NM_001289398.1:c.628G>C NP_001276327.1:p.Gly210Arg
NM_001289399.1:c.712G>C NP_001276328.1:p.Gly238Arg
NM_001289400.1:c.718G>C NP_001276329.1:p.Gly240Arg
NM_003070.4:c.4654G>C NP_003061.3:p.Gly1552Arg
NM_139045.3:c.4600G>C NP_620614.2:p.Gly1534Arg
XR_001746600.1:n.1362-10303C>G
XR_001746601.1:n.1316-10303C>G
NM_003070.5:c.4654G>C MANE Select NP_003061.3:p.Gly1552Arg
NM_001289397.2:c.4426G>C NP_001276326.1:p.Gly1476Arg
NM_001289398.2:c.628G>C NP_001276327.1:p.Gly210Arg
NM_139045.4:c.4600G>C NP_620614.2:p.Gly1534Arg