Canonical Allele Identifier: CA187929203
Gene: SMARCA2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2076174A>T , CM000671.2:g.2076174A>T GRCh38
NC_000009.11:g.2076174A>T , CM000671.1:g.2076174A>T GRCh37
NC_000009.10:g.2066174A>T NCBI36
NG_032162.1:g.65833A>T
NG_032162.2:g.100885A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000637134.2:c.1936-55A>T ENSP00000489667.2:n.1936-55A>T
ENST00000704350.1:c.1576-55A>T ENSP00000515861.1:n.1576-55A>T
ENST00000704352.1:c.1173+21451A>T ENSP00000515863.1:n.1173+21451A>T
ENST00000704353.1:c.1173+21451A>T ENSP00000515864.1:n.1173+21451A>T
ENST00000704354.1:c.1920-55A>T
ENST00000704355.1:c.300-55A>T
ENST00000349721.8:c.1936-55A>T MANE Select ENSP00000265773.5:n.1936-55A>T
ENST00000357248.8:c.1936-55A>T ENSP00000349788.2:n.1936-55A>T
ENST00000635739.1:n.351-55A>T
ENST00000636233.1:n.36-55A>T
ENST00000636501.1:n.67-55A>T
ENST00000637371.1:n.49-55A>T
ENST00000349721.7:c.1936-55A>T ENSP00000265773.5:n.1936-55A>T
ENST00000357248.7:c.1936-55A>T ENSP00000349788.2:n.1936-55A>T
ENST00000382194.6:c.1936-55A>T ENSP00000371629.1:n.1936-55A>T
ENST00000382203.5:c.1936-55A>T ENSP00000371638.1:n.1936-55A>T
ENST00000450198.6:c.1936-55A>T ENSP00000392081.2:n.1936-55A>T
ENST00000634760.1:c.1936-55A>T ENSP00000489256.1:n.1936-55A>T
ENST00000635129.1:n.305-55A>T
NM_001289396.1:c.1936-55A>T NP_001276325.1:n.1936-55A>T
NM_001289397.1:c.1936-55A>T NP_001276326.1:n.1936-55A>T
NM_003070.4:c.1936-55A>T NP_003061.3:n.1936-55A>T
NM_139045.3:c.1936-55A>T NP_620614.2:n.1936-55A>T
NM_003070.5:c.1936-55A>T MANE Select NP_003061.3:n.1936-55A>T
NM_001289397.2:c.1936-55A>T NP_001276326.1:n.1936-55A>T
NM_139045.4:c.1936-55A>T NP_620614.2:n.1936-55A>T