Canonical Allele Identifier: CA16043622
Gene: SMARCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1057518983
MyVariant Identifiers: chr9:g.2123873G>A (hg19) chr9:g.2123873G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2123873G>A , CM000671.2:g.2123873G>A GRCh38
NC_000009.11:g.2123873G>A , CM000671.1:g.2123873G>A GRCh37
NC_000009.10:g.2113873G>A NCBI36
NG_032162.1:g.113532G>A
NG_032162.2:g.148584G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000704350.1:c.3557G>A ENSP00000515861.1:p.Arg1186Lys
ENST00000704352.1:c.1174-37813G>A ENSP00000515863.1:n.1174-37813G>A
ENST00000704353.1:c.1174-37813G>A ENSP00000515864.1:n.1174-37813G>A
ENST00000704354.1:c.3901G>A
ENST00000704355.1:c.2281G>A
ENST00000349721.8:c.3917G>A MANE Select ENSP00000265773.5:p.Arg1306Lys
ENST00000357248.8:c.3917G>A ENSP00000349788.2:p.Arg1306Lys
ENST00000635739.1:n.2585G>A
ENST00000636157.1:n.1524G>A
ENST00000638139.1:n.951G>A
ENST00000639760.2:c.24G>A
ENST00000349721.7:c.3917G>A ENSP00000265773.5:p.Arg1306Lys
ENST00000357248.7:c.3917G>A ENSP00000349788.2:p.Arg1306Lys
ENST00000382194.6:c.3917G>A ENSP00000371629.1:p.Arg1306Lys
ENST00000382203.5:c.3917G>A ENSP00000371638.1:p.Arg1306Lys
ENST00000450198.6:c.3743G>A ENSP00000392081.2:p.Arg1248Lys
ENST00000634760.1:c.3917G>A ENSP00000489256.1:p.Arg1306Lys
ENST00000634772.1:c.294G>A
ENST00000634925.1:n.1408G>A
NM_001289396.1:c.3917G>A NP_001276325.1:p.Arg1306Lys
NM_001289397.1:c.3743G>A NP_001276326.1:p.Arg1248Lys
NM_003070.4:c.3917G>A NP_003061.3:p.Arg1306Lys
NM_139045.3:c.3917G>A NP_620614.2:p.Arg1306Lys
NM_003070.5:c.3917G>A MANE Select NP_003061.3:p.Arg1306Lys
NM_001289397.2:c.3743G>A NP_001276326.1:p.Arg1248Lys
NM_139045.4:c.3917G>A NP_620614.2:p.Arg1306Lys
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