Canonical Allele Identifier: CA2689250307

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2191230-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2191230A>T , CM000671.2:g.2191230A>T	GRCh38
NC_000009.11:g.2191230A>T , CM000671.1:g.2191230A>T	GRCh37
NC_000009.10:g.2181230A>T	NCBI36
NG_032162.1:g.180889A>T
NG_032162.2:g.215941A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704350.1:c.4181-36A>T	ENSP00000515861.1:n.4181-36A>T
ENST00000704352.1:c.1733-36A>T	ENSP00000515863.1:n.1733-36A>T
ENST00000704353.1:c.1787-36A>T	ENSP00000515864.1:n.1787-36A>T
ENST00000704354.1:c.4525-36A>T
ENST00000704355.1:c.2905-36A>T
ENST00000349721.8:c.4595-36A>T MANE Select	ENSP00000265773.5:n.4595-36A>T
ENST00000357248.8:c.4541-36A>T	ENSP00000349788.2:n.4541-36A>T
ENST00000635739.1:n.3209-36A>T
ENST00000636157.1:n.2148-36A>T
ENST00000636367.1:c.*391-36A>T	ENSP00000489942.1:n.*391-36A>T
ENST00000638139.1:n.1629-36A>T
ENST00000639760.2:c.648-36A>T
ENST00000302401.8:c.659-36A>T	ENSP00000305411.3:n.659-36A>T
ENST00000324954.10:c.569-36A>T	ENSP00000324770.6:n.569-36A>T
ENST00000349721.7:c.4595-36A>T	ENSP00000265773.5:n.4595-36A>T
ENST00000357248.7:c.4541-36A>T	ENSP00000349788.2:n.4541-36A>T
ENST00000382183.6:c.533-36A>T	ENSP00000371618.1:n.533-36A>T
ENST00000382185.6:c.653-36A>T	ENSP00000371620.2:n.653-36A>T
ENST00000382186.6:c.587-36A>T	ENSP00000371621.1:n.587-36A>T
ENST00000382194.6:c.4541-36A>T	ENSP00000371629.1:n.4541-36A>T
ENST00000382203.5:c.4595-36A>T	ENSP00000371638.1:n.4595-36A>T
ENST00000416751.2:c.533-36A>T	ENSP00000412242.2:n.533-36A>T
ENST00000417599.6:c.653-36A>T	ENSP00000387486.2:n.653-36A>T
ENST00000423555.6:c.653-36A>T	ENSP00000413057.2:n.653-36A>T
ENST00000450198.6:c.4367-36A>T	ENSP00000392081.2:n.4367-36A>T
ENST00000634338.1:c.707-36A>T	ENSP00000489388.1:n.707-36A>T
ENST00000634435.1:c.707-36A>T	ENSP00000489212.1:n.707-36A>T
ENST00000634760.1:c.*202-36A>T	ENSP00000489256.1:n.*202-36A>T
ENST00000634781.1:c.605-36A>T	ENSP00000489302.1:n.605-36A>T
ENST00000634931.1:c.587-36A>T	ENSP00000489433.1:n.587-36A>T
ENST00000634989.1:c.*391-36A>T	ENSP00000489100.1:n.*391-36A>T
ENST00000635273.1:n.437-36A>T
ENST00000635388.1:c.533-36A>T	ENSP00000489271.1:n.533-36A>T
ENST00000635530.1:c.653-36A>T	ENSP00000489204.1:n.653-36A>T
ENST00000635590.1:c.*391-36A>T	ENSP00000489587.1:n.*391-36A>T
ENST00000635659.1:c.686-36A>T
NM_001289396.1:c.4595-36A>T	NP_001276325.1:n.4595-36A>T
NM_001289397.1:c.4367-36A>T	NP_001276326.1:n.4367-36A>T
NM_001289398.1:c.569-36A>T	NP_001276327.1:n.569-36A>T
NM_001289399.1:c.653-36A>T	NP_001276328.1:n.653-36A>T
NM_001289400.1:c.659-36A>T	NP_001276329.1:n.659-36A>T
NM_003070.4:c.4595-36A>T	NP_003061.3:n.4595-36A>T
NM_139045.3:c.4541-36A>T	NP_620614.2:n.4541-36A>T
XR_001746600.1:n.1362-10208T>A
XR_001746601.1:n.1316-10208T>A
NM_003070.5:c.4595-36A>T MANE Select	NP_003061.3:n.4595-36A>T
NM_001289397.2:c.4367-36A>T	NP_001276326.1:n.4367-36A>T
NM_001289398.2:c.569-36A>T	NP_001276327.1:n.569-36A>T
NM_139045.4:c.4541-36A>T	NP_620614.2:n.4541-36A>T