Canonical Allele Identifier: CA2689242537

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2115749-CTGGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115756_2115760del , CM000671.2:g.2115756_2115760del	GRCh38
NC_000009.11:g.2115756_2115760del , CM000671.1:g.2115756_2115760del	GRCh37
NC_000009.10:g.2105756_2105760del	NCBI36
NG_032162.1:g.105415_105419del
NG_032162.2:g.140467_140471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000704350.1:c.3097-66_3097-62del	ENSP00000515861.1:n.3097-66_3097-62del
ENST00000704352.1:c.1174-45930_1174-45926del	ENSP00000515863.1:n.1174-45930_1174-45926...
ENST00000704353.1:c.1174-45930_1174-45926del	ENSP00000515864.1:n.1174-45930_1174-45926...
ENST00000704354.1:c.3441-66_3441-62del
ENST00000704355.1:c.1821-66_1821-62del
ENST00000349721.8:c.3457-66_3457-62del MANE Select	ENSP00000265773.5:n.3457-66_3457-62del
ENST00000357248.8:c.3457-66_3457-62del	ENSP00000349788.2:n.3457-66_3457-62del
ENST00000635739.1:n.2125-66_2125-62del
ENST00000636157.1:n.1064-66_1064-62del
ENST00000638139.1:n.491-66_491-62del
ENST00000349721.7:c.3457-66_3457-62del	ENSP00000265773.5:n.3457-66_3457-62del
ENST00000357248.7:c.3457-66_3457-62del	ENSP00000349788.2:n.3457-66_3457-62del
ENST00000382194.6:c.3457-66_3457-62del	ENSP00000371629.1:n.3457-66_3457-62del
ENST00000382203.5:c.3457-66_3457-62del	ENSP00000371638.1:n.3457-66_3457-62del
ENST00000450198.6:c.3283-66_3283-62del	ENSP00000392081.2:n.3283-66_3283-62del
ENST00000634760.1:c.3457-66_3457-62del	ENSP00000489256.1:n.3457-66_3457-62del
ENST00000634772.1:c.62-3702_62-3698del
ENST00000634925.1:n.948-66_948-62del
NM_001289396.1:c.3457-66_3457-62del	NP_001276325.1:n.3457-66_3457-62del
NM_001289397.1:c.3283-66_3283-62del	NP_001276326.1:n.3283-66_3283-62del
NM_003070.4:c.3457-66_3457-62del	NP_003061.3:n.3457-66_3457-62del
NM_139045.3:c.3457-66_3457-62del	NP_620614.2:n.3457-66_3457-62del
NM_003070.5:c.3457-66_3457-62del MANE Select	NP_003061.3:n.3457-66_3457-62del
NM_001289397.2:c.3283-66_3283-62del	NP_001276326.1:n.3283-66_3283-62del
NM_139045.4:c.3457-66_3457-62del	NP_620614.2:n.3457-66_3457-62del