Canonical Allele Identifier: CA4962961
Community Standard Title: NM_003070.5(SMARCA2):c.708_710del (p.Gln238del)
Gene: SMARCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2039818_2039820del , CM000671.2:g.2039818_2039820del GRCh38
NC_000009.11:g.2039818_2039820del , CM000671.1:g.2039818_2039820del GRCh37
NC_000009.10:g.2029818_2029820del NCBI36
NG_032162.1:g.29477_29479del
NG_032162.2:g.64529_64531del

Transcript Alleles

HGVS Amino-acid Change
NM_003070.5:c.708_710del MANE Select NP_003061.3:p.Gln237del
ENST00000349721.8:c.708_710del MANE Select ENSP00000265773.5:p.Gln237del
NM_001289396.1:c.708_710del NP_001276325.1:p.Gln237del
NM_001289397.1:c.708_710del NP_001276326.1:p.Gln237del
NM_001289397.2:c.708_710del NP_001276326.1:p.Gln237del
NM_003070.4:c.708_710del NP_003061.3:p.Gln237del
NM_139045.3:c.708_710del NP_620614.2:p.Gln237del
NM_139045.4:c.708_710del NP_620614.2:p.Gln237del
ENST00000349721.7:c.708_710del ENSP00000265773.5:p.Gln237del
ENST00000357248.7:c.708_710del ENSP00000349788.2:p.Gln237del
ENST00000357248.8:c.708_710del ENSP00000349788.2:p.Gln237del
ENST00000382194.6:c.708_710del ENSP00000371629.1:p.Gln237del
ENST00000382203.5:c.708_710del ENSP00000371638.1:p.Gln237del
ENST00000450198.6:c.708_710del ENSP00000392081.2:p.Gln237del
ENST00000491574.2:n.606_608del
ENST00000634760.1:c.708_710del ENSP00000489256.1:p.Gln237del
ENST00000636559.1:c.708_710del ENSP00000490852.1:p.Gln237del
ENST00000636903.1:c.708_710del ENSP00000489968.1:p.Gln237del
ENST00000637103.1:c.708_710del ENSP00000490486.1:p.Gln237del
ENST00000637134.2:c.708_710del ENSP00000489667.2:p.Gln237del
ENST00000637806.1:c.708_710del ENSP00000490551.1:p.Gln237del
ENST00000704350.1:c.348_350del ENSP00000515861.1:p.Gln117del
ENST00000704351.1:c.*323_*325del ENSP00000515862.1:n.*323_*325del
ENST00000704352.1:c.708_710del ENSP00000515863.1:p.Gln237del
ENST00000704353.1:c.708_710del ENSP00000515864.1:p.Gln237del
ENST00000704354.1:c.692_694del