Canonical Allele Identifier: CA16618823
Gene: SMARCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419659
ClinVar RCV Id: RCV000483415
dbSNP Id: rs1064794024
MyVariant Identifiers: chr9:g.2115829A>C (hg19) chr9:g.2115829A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115829A>C , CM000671.2:g.2115829A>C GRCh38
NC_000009.11:g.2115829A>C , CM000671.1:g.2115829A>C GRCh37
NC_000009.10:g.2105829A>C NCBI36
NG_032162.1:g.105488A>C
NG_032162.2:g.140540A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000704350.1:c.3104A>C ENSP00000515861.1:p.Gln1035Pro
ENST00000704352.1:c.1174-45857A>C ENSP00000515863.1:n.1174-45857A>C
ENST00000704353.1:c.1174-45857A>C ENSP00000515864.1:n.1174-45857A>C
ENST00000704354.1:c.3448A>C
ENST00000704355.1:c.1828A>C
ENST00000349721.8:c.3464A>C MANE Select ENSP00000265773.5:p.Gln1155Pro
ENST00000357248.8:c.3464A>C ENSP00000349788.2:p.Gln1155Pro
ENST00000635739.1:n.2132A>C
ENST00000636157.1:n.1071A>C
ENST00000638139.1:n.498A>C
ENST00000349721.7:c.3464A>C ENSP00000265773.5:p.Gln1155Pro
ENST00000357248.7:c.3464A>C ENSP00000349788.2:p.Gln1155Pro
ENST00000382194.6:c.3464A>C ENSP00000371629.1:p.Gln1155Pro
ENST00000382203.5:c.3464A>C ENSP00000371638.1:p.Gln1155Pro
ENST00000450198.6:c.3290A>C ENSP00000392081.2:p.Gln1097Pro
ENST00000634760.1:c.3464A>C ENSP00000489256.1:p.Gln1155Pro
ENST00000634772.1:c.62-3629A>C
ENST00000634925.1:n.955A>C
NM_001289396.1:c.3464A>C NP_001276325.1:p.Gln1155Pro
NM_001289397.1:c.3290A>C NP_001276326.1:p.Gln1097Pro
NM_003070.4:c.3464A>C NP_003061.3:p.Gln1155Pro
NM_139045.3:c.3464A>C NP_620614.2:p.Gln1155Pro
NM_003070.5:c.3464A>C MANE Select NP_003061.3:p.Gln1155Pro
NM_001289397.2:c.3290A>C NP_001276326.1:p.Gln1097Pro
NM_139045.4:c.3464A>C NP_620614.2:p.Gln1155Pro
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