Canonical Allele Identifier: CA187958956

Gene: SMARCA2

Linked Data

• dbSNP Id: rs757672177
• gnomAD v4: 9-2191115-GACAGAACCAC-G
• MyVariant Identifiers: chr9:g.2191116_2191125del (hg19) ; chr9:g.2191116_2191125del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2191123_2191132del , CM000671.2:g.2191123_2191132del	GRCh38
NC_000009.11:g.2191123_2191132del , CM000671.1:g.2191123_2191132del	GRCh37
NC_000009.10:g.2181123_2181132del	NCBI36
NG_032162.1:g.180782_180791del
NG_032162.2:g.215834_215843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.4181-143_4181-134del	ENSP00000515861.1:n.4181-143_4181-134del
ENST00000704352.1:c.1733-143_1733-134del	ENSP00000515863.1:n.1733-143_1733-134del
ENST00000704353.1:c.1787-143_1787-134del	ENSP00000515864.1:n.1787-143_1787-134del
ENST00000704354.1:c.4525-143_4525-134del
ENST00000704355.1:c.2905-143_2905-134del
ENST00000349721.8:c.4595-143_4595-134del MANE Select	ENSP00000265773.5:n.4595-143_4595-134del
ENST00000357248.8:c.4541-143_4541-134del	ENSP00000349788.2:n.4541-143_4541-134del
ENST00000635739.1:n.3209-143_3209-134del
ENST00000636157.1:n.2148-143_2148-134del
ENST00000636367.1:c.*391-143_*391-134del	ENSP00000489942.1:n.*391-143_*391-134del
ENST00000638139.1:n.1629-143_1629-134del
ENST00000639760.2:c.648-143_648-134del
ENST00000302401.8:c.659-143_659-134del	ENSP00000305411.3:n.659-143_659-134del
ENST00000324954.10:c.569-143_569-134del	ENSP00000324770.6:n.569-143_569-134del
ENST00000349721.7:c.4595-143_4595-134del	ENSP00000265773.5:n.4595-143_4595-134del
ENST00000357248.7:c.4541-143_4541-134del	ENSP00000349788.2:n.4541-143_4541-134del
ENST00000382183.6:c.533-143_533-134del	ENSP00000371618.1:n.533-143_533-134del
ENST00000382185.6:c.653-143_653-134del	ENSP00000371620.2:n.653-143_653-134del
ENST00000382186.6:c.587-143_587-134del	ENSP00000371621.1:n.587-143_587-134del
ENST00000382194.6:c.4541-143_4541-134del	ENSP00000371629.1:n.4541-143_4541-134del
ENST00000382203.5:c.4595-143_4595-134del	ENSP00000371638.1:n.4595-143_4595-134del
ENST00000416751.2:c.533-143_533-134del	ENSP00000412242.2:n.533-143_533-134del
ENST00000417599.6:c.653-143_653-134del	ENSP00000387486.2:n.653-143_653-134del
ENST00000423555.6:c.653-143_653-134del	ENSP00000413057.2:n.653-143_653-134del
ENST00000450198.6:c.4367-143_4367-134del	ENSP00000392081.2:n.4367-143_4367-134del
ENST00000634338.1:c.707-143_707-134del	ENSP00000489388.1:n.707-143_707-134del
ENST00000634435.1:c.707-143_707-134del	ENSP00000489212.1:n.707-143_707-134del
ENST00000634760.1:c.*202-143_*202-134del	ENSP00000489256.1:n.*202-143_*202-134del
ENST00000634781.1:c.605-143_605-134del	ENSP00000489302.1:n.605-143_605-134del
ENST00000634931.1:c.587-143_587-134del	ENSP00000489433.1:n.587-143_587-134del
ENST00000634989.1:c.*391-143_*391-134del	ENSP00000489100.1:n.*391-143_*391-134del
ENST00000635273.1:n.437-143_437-134del
ENST00000635388.1:c.533-143_533-134del	ENSP00000489271.1:n.533-143_533-134del
ENST00000635530.1:c.653-143_653-134del	ENSP00000489204.1:n.653-143_653-134del
ENST00000635590.1:c.*391-143_*391-134del	ENSP00000489587.1:n.*391-143_*391-134del
ENST00000635659.1:c.686-143_686-134del
NM_001289396.1:c.4595-143_4595-134del	NP_001276325.1:n.4595-143_4595-134del
NM_001289397.1:c.4367-143_4367-134del	NP_001276326.1:n.4367-143_4367-134del
NM_001289398.1:c.569-143_569-134del	NP_001276327.1:n.569-143_569-134del
NM_001289399.1:c.653-143_653-134del	NP_001276328.1:n.653-143_653-134del
NM_001289400.1:c.659-143_659-134del	NP_001276329.1:n.659-143_659-134del
NM_003070.4:c.4595-143_4595-134del	NP_003061.3:n.4595-143_4595-134del
NM_139045.3:c.4541-143_4541-134del	NP_620614.2:n.4541-143_4541-134del
XR_001746600.1:n.1362-10103_1362-10094del
XR_001746601.1:n.1316-10103_1316-10094del
NM_003070.5:c.4595-143_4595-134del MANE Select	NP_003061.3:n.4595-143_4595-134del
NM_001289397.2:c.4367-143_4367-134del	NP_001276326.1:n.4367-143_4367-134del
NM_001289398.2:c.569-143_569-134del	NP_001276327.1:n.569-143_569-134del
NM_139045.4:c.4541-143_4541-134del	NP_620614.2:n.4541-143_4541-134del