Canonical Allele Identifier: CA2639298031

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832147-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832150del , CM000679.2:g.63832150del	GRCh38
NC_000017.10:g.61909510del , CM000679.1:g.61909510del	GRCh37
NC_000017.9:g.59263242del	NCBI36
NG_053004.1:g.15844del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2665del
ENST00000697953.1:n.3238del
ENST00000698013.1:n.3350del
ENST00000698014.1:n.3573del
ENST00000698015.1:n.2666del
ENST00000698016.1:c.*790del	ENSP00000513502.1:n.*790del
ENST00000698017.1:n.2740del
ENST00000698018.1:n.2871del
ENST00000698019.1:n.3069del
ENST00000698020.1:n.2175del
ENST00000698021.1:c.2084del
ENST00000698022.1:c.*790del	ENSP00000513504.1:n.*790del
ENST00000698023.1:n.2769del
ENST00000698024.1:n.2631del
ENST00000698025.1:n.2791del
ENST00000698026.1:n.1682del
ENST00000698027.1:c.*1007del	ENSP00000513505.1:n.*1007del
ENST00000448276.7:c.*790del MANE Select	ENSP00000392617.2:n.*790del
ENST00000448276.6:c.*790del	ENSP00000392617.2:n.*790del
ENST00000613943.4:c.2275del	ENSP00000483605.1:n.2275del
NM_001098426.1:c.*790del	NP_001091896.1:n.*790del
XM_005257604.2:c.*790del	XP_005257661.2:n.*790del
NM_001330439.1:c.*790del	NP_001317368.1:n.*790del
NM_001330440.1:c.*790del	NP_001317369.1:n.*790del
NM_001098426.2:c.*790del MANE Select	NP_001091896.1:n.*790del
NM_001330440.2:c.*790del	NP_001317369.1:n.*790del