Canonical Allele Identifier: CA2573154587

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 1563610
• ClinVar RCV Id: RCV002209353
• dbSNP Id: rs760329064

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837181C>T , CM000679.2:g.63837181C>T	GRCh38
NC_000017.10:g.61914541C>T , CM000679.1:g.61914541C>T	GRCh37
NC_000017.9:g.59268273C>T	NCBI36
NG_053004.1:g.10811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.549G>A
ENST00000698015.1:n.78+14G>A
ENST00000698016.1:c.303+14G>A	ENSP00000513502.1:n.303+14G>A
ENST00000698020.1:n.233+14G>A
ENST00000698021.1:c.107+14G>A
ENST00000698022.1:c.261+14G>A	ENSP00000513504.1:n.261+14G>A
ENST00000698027.1:c.303+14G>A	ENSP00000513505.1:n.303+14G>A
ENST00000448276.7:c.444+14G>A MANE Select	ENSP00000392617.2:n.444+14G>A
ENST00000225742.13:c.219+14G>A	ENSP00000225742.9:n.219+14G>A
ENST00000323347.14:c.300+14G>A	ENSP00000318451.10:n.300+14G>A
ENST00000448276.6:c.444+14G>A	ENSP00000392617.2:n.444+14G>A
ENST00000577686.1:n.95+14G>A
ENST00000580054.1:c.242G>A	ENSP00000463793.1:p.Arg81Lys
ENST00000584400.5:c.*16+14G>A	ENSP00000464503.1:n.*16+14G>A
ENST00000613943.4:c.333+14G>A	ENSP00000483605.1:n.333+14G>A
NM_001098426.1:c.444+14G>A	NP_001091896.1:n.444+14G>A
XM_005257604.2:c.219+14G>A	XP_005257661.2:n.219+14G>A
NM_001330439.1:c.219+14G>A	NP_001317368.1:n.219+14G>A
NM_001330440.1:c.300+14G>A	NP_001317369.1:n.300+14G>A
NM_001098426.2:c.444+14G>A MANE Select	NP_001091896.1:n.444+14G>A
NM_001330440.2:c.300+14G>A	NP_001317369.1:n.300+14G>A