Canonical Allele Identifier: CA2579289525
Gene: SMARCA2 HGNC NCBI

Linked Data

gnomAD v4: 9-2115750-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2115754del , CM000671.2:g.2115754del GRCh38
NC_000009.11:g.2115754del , CM000671.1:g.2115754del GRCh37
NC_000009.10:g.2105754del NCBI36
NG_032162.1:g.105413del
NG_032162.2:g.140465del

Transcript Alleles

HGVS Amino-acid Change
ENST00000704350.1:c.3097-68del ENSP00000515861.1:n.3097-68del
ENST00000704352.1:c.1174-45932del ENSP00000515863.1:n.1174-45932del
ENST00000704353.1:c.1174-45932del ENSP00000515864.1:n.1174-45932del
ENST00000704354.1:c.3441-68del
ENST00000704355.1:c.1821-68del
ENST00000349721.8:c.3457-68del MANE Select ENSP00000265773.5:n.3457-68del
ENST00000357248.8:c.3457-68del ENSP00000349788.2:n.3457-68del
ENST00000635739.1:n.2125-68del
ENST00000636157.1:n.1064-68del
ENST00000638139.1:n.491-68del
ENST00000349721.7:c.3457-68del ENSP00000265773.5:n.3457-68del
ENST00000357248.7:c.3457-68del ENSP00000349788.2:n.3457-68del
ENST00000382194.6:c.3457-68del ENSP00000371629.1:n.3457-68del
ENST00000382203.5:c.3457-68del ENSP00000371638.1:n.3457-68del
ENST00000450198.6:c.3283-68del ENSP00000392081.2:n.3283-68del
ENST00000634760.1:c.3457-68del ENSP00000489256.1:n.3457-68del
ENST00000634772.1:c.62-3704del
ENST00000634925.1:n.948-68del
NM_001289396.1:c.3457-68del NP_001276325.1:n.3457-68del
NM_001289397.1:c.3283-68del NP_001276326.1:n.3283-68del
NM_003070.4:c.3457-68del NP_003061.3:n.3457-68del
NM_139045.3:c.3457-68del NP_620614.2:n.3457-68del
NM_003070.5:c.3457-68del MANE Select NP_003061.3:n.3457-68del
NM_001289397.2:c.3283-68del NP_001276326.1:n.3283-68del
NM_139045.4:c.3457-68del NP_620614.2:n.3457-68del