Canonical Allele Identifier: CA2639298381

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832470-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832473del , CM000679.2:g.63832473del	GRCh38
NC_000017.10:g.61909833del , CM000679.1:g.61909833del	GRCh37
NC_000017.9:g.59263565del	NCBI36
NG_053004.1:g.15521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2342del
ENST00000697953.1:n.2915del
ENST00000698013.1:n.3027del
ENST00000698014.1:n.3250del
ENST00000698015.1:n.2343del
ENST00000698016.1:c.*467del	ENSP00000513502.1:n.*467del
ENST00000698017.1:n.2417del
ENST00000698018.1:n.2548del
ENST00000698019.1:n.2746del
ENST00000698020.1:n.1852del
ENST00000698021.1:c.1761del
ENST00000698022.1:c.*467del	ENSP00000513504.1:n.*467del
ENST00000698023.1:n.2446del
ENST00000698024.1:n.2308del
ENST00000698025.1:n.2468del
ENST00000698026.1:n.1359del
ENST00000698027.1:c.*684del	ENSP00000513505.1:n.*684del
ENST00000698028.1:n.2551del
ENST00000698029.1:n.3280del
ENST00000448276.7:c.*467del MANE Select	ENSP00000392617.2:n.*467del
ENST00000448276.6:c.*467del	ENSP00000392617.2:n.*467del
ENST00000613943.4:c.1952del	ENSP00000483605.1:n.1952del
NM_001098426.1:c.*467del	NP_001091896.1:n.*467del
XM_005257604.2:c.*467del	XP_005257661.2:n.*467del
NM_001330439.1:c.*467del	NP_001317368.1:n.*467del
NM_001330440.1:c.*467del	NP_001317369.1:n.*467del
NM_001098426.2:c.*467del MANE Select	NP_001091896.1:n.*467del
NM_001330440.2:c.*467del	NP_001317369.1:n.*467del