Canonical Allele Identifier: CA4964248

Gene: SMARCA2

Linked Data

• dbSNP Id: rs777724059
• ExAC: 9:2191217 TCTC / T
• gnomAD v2: 9-2191217-TCTC-T
• gnomAD v3: 9-2191217-TCTC-T
• gnomAD v4: 9-2191217-TCTC-T
• MyVariant Identifiers: chr9:g.2191218_2191220del (hg19) ; chr9:g.2191218_2191220del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2191220_2191222del , CM000671.2:g.2191220_2191222del	GRCh38
NC_000009.11:g.2191220_2191222del , CM000671.1:g.2191220_2191222del	GRCh37
NC_000009.10:g.2181220_2181222del	NCBI36
NG_032162.1:g.180879_180881del
NG_032162.2:g.215931_215933del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704350.1:c.4181-46_4181-44del	ENSP00000515861.1:n.4181-46_4181-44del
ENST00000704352.1:c.1733-46_1733-44del	ENSP00000515863.1:n.1733-46_1733-44del
ENST00000704353.1:c.1787-46_1787-44del	ENSP00000515864.1:n.1787-46_1787-44del
ENST00000704354.1:c.4525-46_4525-44del
ENST00000704355.1:c.2905-46_2905-44del
ENST00000349721.8:c.4595-46_4595-44del MANE Select	ENSP00000265773.5:n.4595-46_4595-44del
ENST00000357248.8:c.4541-46_4541-44del	ENSP00000349788.2:n.4541-46_4541-44del
ENST00000635739.1:n.3209-46_3209-44del
ENST00000636157.1:n.2148-46_2148-44del
ENST00000636367.1:c.*391-46_*391-44del	ENSP00000489942.1:n.*391-46_*391-44del
ENST00000638139.1:n.1629-46_1629-44del
ENST00000639760.2:c.648-46_648-44del
ENST00000302401.8:c.659-46_659-44del	ENSP00000305411.3:n.659-46_659-44del
ENST00000324954.10:c.569-46_569-44del	ENSP00000324770.6:n.569-46_569-44del
ENST00000349721.7:c.4595-46_4595-44del	ENSP00000265773.5:n.4595-46_4595-44del
ENST00000357248.7:c.4541-46_4541-44del	ENSP00000349788.2:n.4541-46_4541-44del
ENST00000382183.6:c.533-46_533-44del	ENSP00000371618.1:n.533-46_533-44del
ENST00000382185.6:c.653-46_653-44del	ENSP00000371620.2:n.653-46_653-44del
ENST00000382186.6:c.587-46_587-44del	ENSP00000371621.1:n.587-46_587-44del
ENST00000382194.6:c.4541-46_4541-44del	ENSP00000371629.1:n.4541-46_4541-44del
ENST00000382203.5:c.4595-46_4595-44del	ENSP00000371638.1:n.4595-46_4595-44del
ENST00000416751.2:c.533-46_533-44del	ENSP00000412242.2:n.533-46_533-44del
ENST00000417599.6:c.653-46_653-44del	ENSP00000387486.2:n.653-46_653-44del
ENST00000423555.6:c.653-46_653-44del	ENSP00000413057.2:n.653-46_653-44del
ENST00000450198.6:c.4367-46_4367-44del	ENSP00000392081.2:n.4367-46_4367-44del
ENST00000634338.1:c.707-46_707-44del	ENSP00000489388.1:n.707-46_707-44del
ENST00000634435.1:c.707-46_707-44del	ENSP00000489212.1:n.707-46_707-44del
ENST00000634760.1:c.*202-46_*202-44del	ENSP00000489256.1:n.*202-46_*202-44del
ENST00000634781.1:c.605-46_605-44del	ENSP00000489302.1:n.605-46_605-44del
ENST00000634931.1:c.587-46_587-44del	ENSP00000489433.1:n.587-46_587-44del
ENST00000634989.1:c.*391-46_*391-44del	ENSP00000489100.1:n.*391-46_*391-44del
ENST00000635273.1:n.437-46_437-44del
ENST00000635388.1:c.533-46_533-44del	ENSP00000489271.1:n.533-46_533-44del
ENST00000635530.1:c.653-46_653-44del	ENSP00000489204.1:n.653-46_653-44del
ENST00000635590.1:c.*391-46_*391-44del	ENSP00000489587.1:n.*391-46_*391-44del
ENST00000635659.1:c.686-46_686-44del
NM_001289396.1:c.4595-46_4595-44del	NP_001276325.1:n.4595-46_4595-44del
NM_001289397.1:c.4367-46_4367-44del	NP_001276326.1:n.4367-46_4367-44del
NM_001289398.1:c.569-46_569-44del	NP_001276327.1:n.569-46_569-44del
NM_001289399.1:c.653-46_653-44del	NP_001276328.1:n.653-46_653-44del
NM_001289400.1:c.659-46_659-44del	NP_001276329.1:n.659-46_659-44del
NM_003070.4:c.4595-46_4595-44del	NP_003061.3:n.4595-46_4595-44del
NM_139045.3:c.4541-46_4541-44del	NP_620614.2:n.4541-46_4541-44del
XR_001746600.1:n.1362-10198_1362-10196del
XR_001746601.1:n.1316-10198_1316-10196del
NM_003070.5:c.4595-46_4595-44del MANE Select	NP_003061.3:n.4595-46_4595-44del
NM_001289397.2:c.4367-46_4367-44del	NP_001276326.1:n.4367-46_4367-44del
NM_001289398.2:c.569-46_569-44del	NP_001276327.1:n.569-46_569-44del
NM_139045.4:c.4541-46_4541-44del	NP_620614.2:n.4541-46_4541-44del