Canonical Allele Identifier: CA2552546659
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832432_63832433del , CM000679.2:g.63832432_63832433del GRCh38
NC_000017.10:g.61909792_61909793del , CM000679.1:g.61909792_61909793del GRCh37
NC_000017.9:g.59263524_59263525del NCBI36
NG_053004.1:g.15560_15561del

Transcript Alleles

HGVS Amino-acid Change
ENST00000584483.6:n.2381_2382del
ENST00000697953.1:n.2954_2955del
ENST00000698013.1:n.3066_3067del
ENST00000698014.1:n.3289_3290del
ENST00000698015.1:n.2382_2383del
ENST00000698016.1:c.*506_*507del ENSP00000513502.1:n.*506_*507del
ENST00000698017.1:n.2456_2457del
ENST00000698018.1:n.2587_2588del
ENST00000698019.1:n.2785_2786del
ENST00000698020.1:n.1891_1892del
ENST00000698021.1:c.1800_1801del
ENST00000698022.1:c.*506_*507del ENSP00000513504.1:n.*506_*507del
ENST00000698023.1:n.2485_2486del
ENST00000698024.1:n.2347_2348del
ENST00000698025.1:n.2507_2508del
ENST00000698026.1:n.1398_1399del
ENST00000698027.1:c.*723_*724del ENSP00000513505.1:n.*723_*724del
ENST00000698028.1:n.2590_2591del
ENST00000698029.1:n.3319_3320del
ENST00000448276.7:c.*506_*507del MANE Select ENSP00000392617.2:n.*506_*507del
ENST00000448276.6:c.*506_*507del ENSP00000392617.2:n.*506_*507del
ENST00000613943.4:c.1991_1992del ENSP00000483605.1:n.1991_1992del
NM_001098426.1:c.*506_*507del NP_001091896.1:n.*506_*507del
XM_005257604.2:c.*506_*507del XP_005257661.2:n.*506_*507del
NM_001330439.1:c.*506_*507del NP_001317368.1:n.*506_*507del
NM_001330440.1:c.*506_*507del NP_001317369.1:n.*506_*507del
NM_001098426.2:c.*506_*507del MANE Select NP_001091896.1:n.*506_*507del
NM_001330440.2:c.*506_*507del NP_001317369.1:n.*506_*507del