Canonical Allele Identifier: CA862169893
Gene: SMARCA2 HGNC NCBI

Linked Data

dbSNP Id: rs146644912
gnomAD v3: 9-2191233-C-A
gnomAD v4: 9-2191233-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2191233C>A , CM000671.2:g.2191233C>A GRCh38
NC_000009.11:g.2191233C>A , CM000671.1:g.2191233C>A GRCh37
NC_000009.10:g.2181233C>A NCBI36
NG_032162.1:g.180892C>A
NG_032162.2:g.215944C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000704350.1:c.4181-33C>A ENSP00000515861.1:n.4181-33C>A
ENST00000704352.1:c.1733-33C>A ENSP00000515863.1:n.1733-33C>A
ENST00000704353.1:c.1787-33C>A ENSP00000515864.1:n.1787-33C>A
ENST00000704354.1:c.4525-33C>A
ENST00000704355.1:c.2905-33C>A
ENST00000349721.8:c.4595-33C>A MANE Select ENSP00000265773.5:n.4595-33C>A
ENST00000357248.8:c.4541-33C>A ENSP00000349788.2:n.4541-33C>A
ENST00000635739.1:n.3209-33C>A
ENST00000636157.1:n.2148-33C>A
ENST00000636367.1:c.*391-33C>A ENSP00000489942.1:n.*391-33C>A
ENST00000638139.1:n.1629-33C>A
ENST00000639760.2:c.648-33C>A
ENST00000302401.8:c.659-33C>A ENSP00000305411.3:n.659-33C>A
ENST00000324954.10:c.569-33C>A ENSP00000324770.6:n.569-33C>A
ENST00000349721.7:c.4595-33C>A ENSP00000265773.5:n.4595-33C>A
ENST00000357248.7:c.4541-33C>A ENSP00000349788.2:n.4541-33C>A
ENST00000382183.6:c.533-33C>A ENSP00000371618.1:n.533-33C>A
ENST00000382185.6:c.653-33C>A ENSP00000371620.2:n.653-33C>A
ENST00000382186.6:c.587-33C>A ENSP00000371621.1:n.587-33C>A
ENST00000382194.6:c.4541-33C>A ENSP00000371629.1:n.4541-33C>A
ENST00000382203.5:c.4595-33C>A ENSP00000371638.1:n.4595-33C>A
ENST00000416751.2:c.533-33C>A ENSP00000412242.2:n.533-33C>A
ENST00000417599.6:c.653-33C>A ENSP00000387486.2:n.653-33C>A
ENST00000423555.6:c.653-33C>A ENSP00000413057.2:n.653-33C>A
ENST00000450198.6:c.4367-33C>A ENSP00000392081.2:n.4367-33C>A
ENST00000634338.1:c.707-33C>A ENSP00000489388.1:n.707-33C>A
ENST00000634435.1:c.707-33C>A ENSP00000489212.1:n.707-33C>A
ENST00000634760.1:c.*202-33C>A ENSP00000489256.1:n.*202-33C>A
ENST00000634781.1:c.605-33C>A ENSP00000489302.1:n.605-33C>A
ENST00000634931.1:c.587-33C>A ENSP00000489433.1:n.587-33C>A
ENST00000634989.1:c.*391-33C>A ENSP00000489100.1:n.*391-33C>A
ENST00000635273.1:n.437-33C>A
ENST00000635388.1:c.533-33C>A ENSP00000489271.1:n.533-33C>A
ENST00000635530.1:c.653-33C>A ENSP00000489204.1:n.653-33C>A
ENST00000635590.1:c.*391-33C>A ENSP00000489587.1:n.*391-33C>A
ENST00000635659.1:c.686-33C>A
NM_001289396.1:c.4595-33C>A NP_001276325.1:n.4595-33C>A
NM_001289397.1:c.4367-33C>A NP_001276326.1:n.4367-33C>A
NM_001289398.1:c.569-33C>A NP_001276327.1:n.569-33C>A
NM_001289399.1:c.653-33C>A NP_001276328.1:n.653-33C>A
NM_001289400.1:c.659-33C>A NP_001276329.1:n.659-33C>A
NM_003070.4:c.4595-33C>A NP_003061.3:n.4595-33C>A
NM_139045.3:c.4541-33C>A NP_620614.2:n.4541-33C>A
XR_001746600.1:n.1362-10211G>T
XR_001746601.1:n.1316-10211G>T
NM_003070.5:c.4595-33C>A MANE Select NP_003061.3:n.4595-33C>A
NM_001289397.2:c.4367-33C>A NP_001276326.1:n.4367-33C>A
NM_001289398.2:c.569-33C>A NP_001276327.1:n.569-33C>A
NM_139045.4:c.4541-33C>A NP_620614.2:n.4541-33C>A