Canonical Allele Identifier: CA862095320

Gene: SMARCA2

Linked Data

• dbSNP Id: rs1247189367
• gnomAD v3: 9-2115676-TTG-T
• gnomAD v4: 9-2115676-TTG-T
• MyVariant Identifiers: chr9:g.2115677_2115678del (hg19) ; chr9:g.2115677_2115678del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115682_2115683del , CM000671.2:g.2115682_2115683del	GRCh38
NC_000009.11:g.2115682_2115683del , CM000671.1:g.2115682_2115683del	GRCh37
NC_000009.10:g.2105682_2105683del	NCBI36
NG_032162.1:g.105341_105342del
NG_032162.2:g.140393_140394del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3097-140_3097-139del	ENSP00000515861.1:n.3097-140_3097-139del
ENST00000704352.1:c.1174-46004_1174-46003del	ENSP00000515863.1:n.1174-46004_1174-46003del
ENST00000704353.1:c.1174-46004_1174-46003del	ENSP00000515864.1:n.1174-46004_1174-46003del
ENST00000704354.1:c.3441-140_3441-139del
ENST00000704355.1:c.1821-140_1821-139del
ENST00000349721.8:c.3457-140_3457-139del MANE Select	ENSP00000265773.5:n.3457-140_3457-139del
ENST00000357248.8:c.3457-140_3457-139del	ENSP00000349788.2:n.3457-140_3457-139del
ENST00000635739.1:n.2125-140_2125-139del
ENST00000636157.1:n.1064-140_1064-139del
ENST00000638139.1:n.491-140_491-139del
ENST00000349721.7:c.3457-140_3457-139del	ENSP00000265773.5:n.3457-140_3457-139del
ENST00000357248.7:c.3457-140_3457-139del	ENSP00000349788.2:n.3457-140_3457-139del
ENST00000382194.6:c.3457-140_3457-139del	ENSP00000371629.1:n.3457-140_3457-139del
ENST00000382203.5:c.3457-140_3457-139del	ENSP00000371638.1:n.3457-140_3457-139del
ENST00000450198.6:c.3283-140_3283-139del	ENSP00000392081.2:n.3283-140_3283-139del
ENST00000634760.1:c.3457-140_3457-139del	ENSP00000489256.1:n.3457-140_3457-139del
ENST00000634772.1:c.62-3776_62-3775del
ENST00000634925.1:n.948-140_948-139del
NM_001289396.1:c.3457-140_3457-139del	NP_001276325.1:n.3457-140_3457-139del
NM_001289397.1:c.3283-140_3283-139del	NP_001276326.1:n.3283-140_3283-139del
NM_003070.4:c.3457-140_3457-139del	NP_003061.3:n.3457-140_3457-139del
NM_139045.3:c.3457-140_3457-139del	NP_620614.2:n.3457-140_3457-139del
NM_003070.5:c.3457-140_3457-139del MANE Select	NP_003061.3:n.3457-140_3457-139del
NM_001289397.2:c.3283-140_3283-139del	NP_001276326.1:n.3283-140_3283-139del
NM_139045.4:c.3457-140_3457-139del	NP_620614.2:n.3457-140_3457-139del