Canonical Allele Identifier: CA2689242593

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2116066-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116067_2116068del , CM000671.2:g.2116067_2116068del	GRCh38
NC_000009.11:g.2116067_2116068del , CM000671.1:g.2116067_2116068del	GRCh37
NC_000009.10:g.2106067_2106068del	NCBI36
NG_032162.1:g.105726_105727del
NG_032162.2:g.140778_140779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3324+18_3324+19del	ENSP00000515861.1:n.3324+18_3324+19del
ENST00000704352.1:c.1174-45619_1174-45618del	ENSP00000515863.1:n.1174-45619_1174-45618del
ENST00000704353.1:c.1174-45619_1174-45618del	ENSP00000515864.1:n.1174-45619_1174-45618del
ENST00000704354.1:c.3668+18_3668+19del
ENST00000704355.1:c.2048+18_2048+19del
ENST00000349721.8:c.3684+18_3684+19del MANE Select	ENSP00000265773.5:n.3684+18_3684+19del
ENST00000357248.8:c.3684+18_3684+19del	ENSP00000349788.2:n.3684+18_3684+19del
ENST00000635739.1:n.2352+18_2352+19del
ENST00000636157.1:n.1291+18_1291+19del
ENST00000638139.1:n.718+18_718+19del
ENST00000349721.7:c.3684+18_3684+19del	ENSP00000265773.5:n.3684+18_3684+19del
ENST00000357248.7:c.3684+18_3684+19del	ENSP00000349788.2:n.3684+18_3684+19del
ENST00000382194.6:c.3684+18_3684+19del	ENSP00000371629.1:n.3684+18_3684+19del
ENST00000382203.5:c.3684+18_3684+19del	ENSP00000371638.1:n.3684+18_3684+19del
ENST00000450198.6:c.3510+18_3510+19del	ENSP00000392081.2:n.3510+18_3510+19del
ENST00000634760.1:c.3684+18_3684+19del	ENSP00000489256.1:n.3684+18_3684+19del
ENST00000634772.1:c.62-3391_62-3390del
ENST00000634925.1:n.1175+18_1175+19del
NM_001289396.1:c.3684+18_3684+19del	NP_001276325.1:n.3684+18_3684+19del
NM_001289397.1:c.3510+18_3510+19del	NP_001276326.1:n.3510+18_3510+19del
NM_003070.4:c.3684+18_3684+19del	NP_003061.3:n.3684+18_3684+19del
NM_139045.3:c.3684+18_3684+19del	NP_620614.2:n.3684+18_3684+19del
NM_003070.5:c.3684+18_3684+19del MANE Select	NP_003061.3:n.3684+18_3684+19del
NM_001289397.2:c.3510+18_3510+19del	NP_001276326.1:n.3510+18_3510+19del
NM_139045.4:c.3684+18_3684+19del	NP_620614.2:n.3684+18_3684+19del