Canonical Allele Identifier: CA372792704
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2191329A>G , CM000671.2:g.2191329A>G GRCh38
NC_000009.11:g.2191329A>G , CM000671.1:g.2191329A>G GRCh37
NC_000009.10:g.2181329A>G NCBI36
NG_032162.1:g.180988A>G
NG_032162.2:g.216040A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.4244A>G ENSP00000515861.1:p.Lys1415Arg
ENST00000704352.1:c.1796A>G ENSP00000515863.1:p.Lys599Arg
ENST00000704353.1:c.1850A>G ENSP00000515864.1:p.Lys617Arg
ENST00000704354.1:c.4588A>G
ENST00000704355.1:c.2968A>G
ENST00000349721.8:c.4658A>G MANE Select ENSP00000265773.5:p.Lys1553Arg
ENST00000357248.8:c.4604A>G ENSP00000349788.2:p.Lys1535Arg
ENST00000635739.1:n.3272A>G
ENST00000636157.1:n.2211A>G
ENST00000636367.1:c.*454A>G ENSP00000489942.1:n.*454A>G
ENST00000638139.1:n.1692A>G
ENST00000639760.2:c.711A>G
ENST00000302401.8:c.722A>G ENSP00000305411.3:p.Lys241Arg
ENST00000324954.10:c.632A>G ENSP00000324770.6:p.Lys211Arg
ENST00000349721.7:c.4658A>G ENSP00000265773.5:p.Lys1553Arg
ENST00000357248.7:c.4604A>G ENSP00000349788.2:p.Lys1535Arg
ENST00000382183.6:c.596A>G ENSP00000371618.1:p.Lys199Arg
ENST00000382185.6:c.716A>G ENSP00000371620.2:p.Lys239Arg
ENST00000382186.6:c.650A>G ENSP00000371621.1:p.Lys217Arg
ENST00000382194.6:c.4604A>G ENSP00000371629.1:p.Lys1535Arg
ENST00000382203.5:c.4658A>G ENSP00000371638.1:p.Lys1553Arg
ENST00000417599.6:c.716A>G ENSP00000387486.2:p.Lys239Arg
ENST00000450198.6:c.4430A>G ENSP00000392081.2:p.Lys1477Arg
ENST00000634760.1:c.*265A>G ENSP00000489256.1:n.*265A>G
ENST00000634781.1:c.668A>G ENSP00000489302.1:p.Lys223Arg
ENST00000634931.1:c.650A>G ENSP00000489433.1:p.Lys217Arg
ENST00000634989.1:c.*454A>G ENSP00000489100.1:n.*454A>G
ENST00000635273.1:n.500A>G
ENST00000635388.1:c.596A>G ENSP00000489271.1:p.Lys199Arg
ENST00000635590.1:c.*454A>G ENSP00000489587.1:n.*454A>G
ENST00000635659.1:c.749A>G
NM_001289396.1:c.4658A>G NP_001276325.1:p.Lys1553Arg
NM_001289397.1:c.4430A>G NP_001276326.1:p.Lys1477Arg
NM_001289398.1:c.632A>G NP_001276327.1:p.Lys211Arg
NM_001289399.1:c.716A>G NP_001276328.1:p.Lys239Arg
NM_001289400.1:c.722A>G NP_001276329.1:p.Lys241Arg
NM_003070.4:c.4658A>G NP_003061.3:p.Lys1553Arg
NM_139045.3:c.4604A>G NP_620614.2:p.Lys1535Arg
XR_001746600.1:n.1362-10307T>C
XR_001746601.1:n.1316-10307T>C
NM_003070.5:c.4658A>G MANE Select NP_003061.3:p.Lys1553Arg
NM_001289397.2:c.4430A>G NP_001276326.1:p.Lys1477Arg
NM_001289398.2:c.632A>G NP_001276327.1:p.Lys211Arg
NM_139045.4:c.4604A>G NP_620614.2:p.Lys1535Arg