Canonical Allele Identifier: CA2639298358

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832447-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832451del , CM000679.2:g.63832451del	GRCh38
NC_000017.10:g.61909811del , CM000679.1:g.61909811del	GRCh37
NC_000017.9:g.59263543del	NCBI36
NG_053004.1:g.15544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2365del
ENST00000697953.1:n.2938del
ENST00000698013.1:n.3050del
ENST00000698014.1:n.3273del
ENST00000698015.1:n.2366del
ENST00000698016.1:c.*490del	ENSP00000513502.1:n.*490del
ENST00000698017.1:n.2440del
ENST00000698018.1:n.2571del
ENST00000698019.1:n.2769del
ENST00000698020.1:n.1875del
ENST00000698021.1:c.1784del
ENST00000698022.1:c.*490del	ENSP00000513504.1:n.*490del
ENST00000698023.1:n.2469del
ENST00000698024.1:n.2331del
ENST00000698025.1:n.2491del
ENST00000698026.1:n.1382del
ENST00000698027.1:c.*707del	ENSP00000513505.1:n.*707del
ENST00000698028.1:n.2574del
ENST00000698029.1:n.3303del
ENST00000448276.7:c.*490del MANE Select	ENSP00000392617.2:n.*490del
ENST00000448276.6:c.*490del	ENSP00000392617.2:n.*490del
ENST00000613943.4:c.1975del	ENSP00000483605.1:n.1975del
NM_001098426.1:c.*490del	NP_001091896.1:n.*490del
XM_005257604.2:c.*490del	XP_005257661.2:n.*490del
NM_001330439.1:c.*490del	NP_001317368.1:n.*490del
NM_001330440.1:c.*490del	NP_001317369.1:n.*490del
NM_001098426.2:c.*490del MANE Select	NP_001091896.1:n.*490del
NM_001330440.2:c.*490del	NP_001317369.1:n.*490del