Canonical Allele Identifier: CA2270105561

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040280883

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837494del , CM000679.2:g.63837494del	GRCh38
NC_000017.10:g.61914854del , CM000679.1:g.61914854del	GRCh37
NC_000017.9:g.59268586del	NCBI36
NG_053004.1:g.10501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.239del
ENST00000698016.1:c.210del	ENSP00000513502.1:p.Lys70AsnfsTer19
ENST00000698021.1:c.14del
ENST00000698022.1:c.168del	ENSP00000513504.1:p.Lys56AsnfsTer19
ENST00000698027.1:c.210del	ENSP00000513505.1:p.Lys70AsnfsTer19
ENST00000448276.7:c.351del MANE Select	ENSP00000392617.2:p.Lys117AsnfsTer19
ENST00000225742.13:c.126del	ENSP00000225742.9:p.Lys42AsnfsTer19
ENST00000323347.14:c.207del	ENSP00000318451.10:p.Lys69AsnfsTer19
ENST00000448276.6:c.351del	ENSP00000392617.2:p.Lys117AsnfsTer19
ENST00000577686.1:n.53-254del
ENST00000580054.1:c.135del	ENSP00000463793.1:p.Lys45AsnfsTer19
ENST00000584400.5:c.217-254del	ENSP00000464503.1:n.217-254del
ENST00000613943.4:c.240del	ENSP00000483605.1:p.Lys80AsnfsTer19
NM_001098426.1:c.351del	NP_001091896.1:p.Lys117AsnfsTer19
XM_005257604.2:c.126del	XP_005257661.2:p.Lys42AsnfsTer19
NM_001330439.1:c.126del	NP_001317368.1:p.Lys42AsnfsTer19
NM_001330440.1:c.207del	NP_001317369.1:p.Lys69AsnfsTer19
NM_001098426.2:c.351del MANE Select	NP_001091896.1:p.Lys117AsnfsTer19
NM_001330440.2:c.207del	NP_001317369.1:p.Lys69AsnfsTer19