Canonical Allele Identifier: CA2270102996
Gene: SMARCD2 HGNC NCBI

Linked Data

dbSNP Id: rs2040197365

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832093_63832094del , CM000679.2:g.63832093_63832094del GRCh38
NC_000017.10:g.61909453_61909454del , CM000679.1:g.61909453_61909454del GRCh37
NC_000017.9:g.59263185_59263186del NCBI36
NG_053004.1:g.15898_15899del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697953.1:n.3292_3293del
ENST00000698013.1:n.3404_3405del
ENST00000698014.1:n.3627_3628del
ENST00000698015.1:n.2720_2721del
ENST00000698016.1:c.*844_*845del ENSP00000513502.1:n.*844_*845del
ENST00000698017.1:n.2794_2795del
ENST00000448276.7:c.*844_*845del MANE Select ENSP00000392617.2:n.*844_*845del
ENST00000448276.6:c.*844_*845del ENSP00000392617.2:n.*844_*845del
ENST00000613943.4:c.2329_2330del ENSP00000483605.1:n.2329_2330del
NM_001098426.1:c.*844_*845del NP_001091896.1:n.*844_*845del
XM_005257604.2:c.*844_*845del XP_005257661.2:n.*844_*845del
NM_001330439.1:c.*844_*845del NP_001317368.1:n.*844_*845del
NM_001330440.1:c.*844_*845del NP_001317369.1:n.*844_*845del
NM_001098426.2:c.*844_*845del MANE Select NP_001091896.1:n.*844_*845del
NM_001330440.2:c.*844_*845del NP_001317369.1:n.*844_*845del