Canonical Allele Identifier: CA372789071
Gene: SMARCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2116021C>G , CM000671.2:g.2116021C>G GRCh38
NC_000009.11:g.2116021C>G , CM000671.1:g.2116021C>G GRCh37
NC_000009.10:g.2106021C>G NCBI36
NG_032162.1:g.105680C>G
NG_032162.2:g.140732C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3296C>G ENSP00000515861.1:p.Ala1099Gly
ENST00000704352.1:c.1174-45665C>G ENSP00000515863.1:n.1174-45665C>G
ENST00000704353.1:c.1174-45665C>G ENSP00000515864.1:n.1174-45665C>G
ENST00000704354.1:c.3640C>G
ENST00000704355.1:c.2020C>G
ENST00000349721.8:c.3656C>G MANE Select ENSP00000265773.5:p.Ala1219Gly
ENST00000357248.8:c.3656C>G ENSP00000349788.2:p.Ala1219Gly
ENST00000635739.1:n.2324C>G
ENST00000636157.1:n.1263C>G
ENST00000638139.1:n.690C>G
ENST00000349721.7:c.3656C>G ENSP00000265773.5:p.Ala1219Gly
ENST00000357248.7:c.3656C>G ENSP00000349788.2:p.Ala1219Gly
ENST00000382194.6:c.3656C>G ENSP00000371629.1:p.Ala1219Gly
ENST00000382203.5:c.3656C>G ENSP00000371638.1:p.Ala1219Gly
ENST00000450198.6:c.3482C>G ENSP00000392081.2:p.Ala1161Gly
ENST00000634760.1:c.3656C>G ENSP00000489256.1:p.Ala1219Gly
ENST00000634772.1:c.62-3437C>G
ENST00000634925.1:n.1147C>G
NM_001289396.1:c.3656C>G NP_001276325.1:p.Ala1219Gly
NM_001289397.1:c.3482C>G NP_001276326.1:p.Ala1161Gly
NM_003070.4:c.3656C>G NP_003061.3:p.Ala1219Gly
NM_139045.3:c.3656C>G NP_620614.2:p.Ala1219Gly
NM_003070.5:c.3656C>G MANE Select NP_003061.3:p.Ala1219Gly
NM_001289397.2:c.3482C>G NP_001276326.1:p.Ala1161Gly
NM_139045.4:c.3656C>G NP_620614.2:p.Ala1219Gly