Canonical Allele Identifier: CA2689242632

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2116131-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116131A>T , CM000671.2:g.2116131A>T	GRCh38
NC_000009.11:g.2116131A>T , CM000671.1:g.2116131A>T	GRCh37
NC_000009.10:g.2106131A>T	NCBI36
NG_032162.1:g.105790A>T
NG_032162.2:g.140842A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3324+82A>T	ENSP00000515861.1:n.3324+82A>T
ENST00000704352.1:c.1174-45555A>T	ENSP00000515863.1:n.1174-45555A>T
ENST00000704353.1:c.1174-45555A>T	ENSP00000515864.1:n.1174-45555A>T
ENST00000704354.1:c.3668+82A>T
ENST00000704355.1:c.2048+82A>T
ENST00000349721.8:c.3684+82A>T MANE Select	ENSP00000265773.5:n.3684+82A>T
ENST00000357248.8:c.3684+82A>T	ENSP00000349788.2:n.3684+82A>T
ENST00000635739.1:n.2352+82A>T
ENST00000636157.1:n.1291+82A>T
ENST00000638139.1:n.718+82A>T
ENST00000349721.7:c.3684+82A>T	ENSP00000265773.5:n.3684+82A>T
ENST00000357248.7:c.3684+82A>T	ENSP00000349788.2:n.3684+82A>T
ENST00000382194.6:c.3684+82A>T	ENSP00000371629.1:n.3684+82A>T
ENST00000382203.5:c.3684+82A>T	ENSP00000371638.1:n.3684+82A>T
ENST00000450198.6:c.3510+82A>T	ENSP00000392081.2:n.3510+82A>T
ENST00000634760.1:c.3684+82A>T	ENSP00000489256.1:n.3684+82A>T
ENST00000634772.1:c.62-3327A>T
ENST00000634925.1:n.1175+82A>T
NM_001289396.1:c.3684+82A>T	NP_001276325.1:n.3684+82A>T
NM_001289397.1:c.3510+82A>T	NP_001276326.1:n.3510+82A>T
NM_003070.4:c.3684+82A>T	NP_003061.3:n.3684+82A>T
NM_139045.3:c.3684+82A>T	NP_620614.2:n.3684+82A>T
NM_003070.5:c.3684+82A>T MANE Select	NP_003061.3:n.3684+82A>T
NM_001289397.2:c.3510+82A>T	NP_001276326.1:n.3510+82A>T
NM_139045.4:c.3684+82A>T	NP_620614.2:n.3684+82A>T