Canonical Allele Identifier: CA586168397
Gene: SMARCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1237579097
gnomAD v2: 9-2110247-C-T
gnomAD v4: 9-2110247-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2110247C>T , CM000671.2:g.2110247C>T GRCh38
NC_000009.11:g.2110247C>T , CM000671.1:g.2110247C>T GRCh37
NC_000009.10:g.2100247C>T NCBI36
NG_032162.1:g.99906C>T
NG_032162.2:g.134958C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000637134.2:c.3293-7C>T ENSP00000489667.2:n.3293-7C>T
ENST00000704350.1:c.2933-7C>T ENSP00000515861.1:n.2933-7C>T
ENST00000704352.1:c.1174-51439C>T ENSP00000515863.1:n.1174-51439C>T
ENST00000704353.1:c.1174-51439C>T ENSP00000515864.1:n.1174-51439C>T
ENST00000704354.1:c.3277-7C>T
ENST00000704355.1:c.1657-7C>T
ENST00000349721.8:c.3293-7C>T MANE Select ENSP00000265773.5:n.3293-7C>T
ENST00000357248.8:c.3293-7C>T ENSP00000349788.2:n.3293-7C>T
ENST00000635739.1:n.1961-7C>T
ENST00000636157.1:n.900-7C>T
ENST00000638139.1:n.327-7C>T
ENST00000349721.7:c.3293-7C>T ENSP00000265773.5:n.3293-7C>T
ENST00000357248.7:c.3293-7C>T ENSP00000349788.2:n.3293-7C>T
ENST00000382194.6:c.3293-7C>T ENSP00000371629.1:n.3293-7C>T
ENST00000382203.5:c.3293-7C>T ENSP00000371638.1:n.3293-7C>T
ENST00000450198.6:c.3119-7C>T ENSP00000392081.2:n.3119-7C>T
ENST00000634271.1:n.466-7C>T
ENST00000634760.1:c.3293-7C>T ENSP00000489256.1:n.3293-7C>T
ENST00000634925.1:n.784-7C>T
NM_001289396.1:c.3293-7C>T NP_001276325.1:n.3293-7C>T
NM_001289397.1:c.3119-7C>T NP_001276326.1:n.3119-7C>T
NM_003070.4:c.3293-7C>T NP_003061.3:n.3293-7C>T
NM_139045.3:c.3293-7C>T NP_620614.2:n.3293-7C>T
NM_003070.5:c.3293-7C>T MANE Select NP_003061.3:n.3293-7C>T
NM_001289397.2:c.3119-7C>T NP_001276326.1:n.3119-7C>T
NM_139045.4:c.3293-7C>T NP_620614.2:n.3293-7C>T