Canonical Allele Identifier: CA2639298458

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832559-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832562_63832563del , CM000679.2:g.63832562_63832563del	GRCh38
NC_000017.10:g.61909922_61909923del , CM000679.1:g.61909922_61909923del	GRCh37
NC_000017.9:g.59263654_59263655del	NCBI36
NG_053004.1:g.15431_15432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2252_2253del
ENST00000697953.1:n.2825_2826del
ENST00000698013.1:n.2937_2938del
ENST00000698014.1:n.3160_3161del
ENST00000698015.1:n.2253_2254del
ENST00000698016.1:c.*377_*378del	ENSP00000513502.1:n.*377_*378del
ENST00000698017.1:n.2327_2328del
ENST00000698018.1:n.2458_2459del
ENST00000698019.1:n.2656_2657del
ENST00000698020.1:n.1762_1763del
ENST00000698021.1:c.1671_1672del
ENST00000698022.1:c.*377_*378del	ENSP00000513504.1:n.*377_*378del
ENST00000698023.1:n.2356_2357del
ENST00000698024.1:n.2218_2219del
ENST00000698025.1:n.2378_2379del
ENST00000698026.1:n.1269_1270del
ENST00000698027.1:c.*594_*595del	ENSP00000513505.1:n.*594_*595del
ENST00000698028.1:n.2461_2462del
ENST00000698029.1:n.3190_3191del
ENST00000448276.7:c.*377_*378del MANE Select	ENSP00000392617.2:n.*377_*378del
ENST00000323347.14:c.*377_*378del	ENSP00000318451.10:n.*377_*378del
ENST00000448276.6:c.*377_*378del	ENSP00000392617.2:n.*377_*378del
ENST00000613943.4:c.1862_1863del	ENSP00000483605.1:n.1862_1863del
NM_001098426.1:c.*377_*378del	NP_001091896.1:n.*377_*378del
XM_005257604.2:c.*377_*378del	XP_005257661.2:n.*377_*378del
NM_001330439.1:c.*377_*378del	NP_001317368.1:n.*377_*378del
NM_001330440.1:c.*377_*378del	NP_001317369.1:n.*377_*378del
NM_001098426.2:c.*377_*378del MANE Select	NP_001091896.1:n.*377_*378del
NM_001330440.2:c.*377_*378del	NP_001317369.1:n.*377_*378del