Canonical Allele Identifier: CA292954911

Gene: SMARCD2

Linked Data

• ClinVar Variation Id: 2980951
• ClinVar RCV Id: RCV003840109
• dbSNP Id: rs1044947447
• gnomAD v2: 17-61915004-CG-C
• gnomAD v3: 17-63837644-CG-C
• gnomAD v4: 17-63837644-CG-C
• MyVariant Identifiers: chr17:g.61915005del (hg19) ; chr17:g.63837645del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837649del , CM000679.2:g.63837649del	GRCh38
NC_000017.10:g.61915009del , CM000679.1:g.61915009del	GRCh37
NC_000017.9:g.59268741del	NCBI36
NG_053004.1:g.10347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.105-20del
ENST00000698016.1:c.56del	ENSP00000513502.1:p.Pro19ArgfsTer?
ENST00000698022.1:c.34-20del	ENSP00000513504.1:n.34-20del
ENST00000698027.1:c.56del	ENSP00000513505.1:p.Pro19ArgfsTer?
ENST00000448276.7:c.217-20del MANE Select	ENSP00000392617.2:n.217-20del
ENST00000225742.13:c.-9-20del	ENSP00000225742.9:n.-9-20del
ENST00000323347.14:c.73-20del	ENSP00000318451.10:n.73-20del
ENST00000448276.6:c.217-20del	ENSP00000392617.2:n.217-20del
ENST00000577686.1:n.53-408del
ENST00000584400.5:c.217-408del	ENSP00000464503.1:n.217-408del
ENST00000613943.4:c.106-20del	ENSP00000483605.1:n.106-20del
NM_001098426.1:c.217-20del	NP_001091896.1:n.217-20del
XM_005257604.2:c.-9-20del	XP_005257661.2:n.-9-20del
NM_001330439.1:c.-9-20del	NP_001317368.1:n.-9-20del
NM_001330440.1:c.73-20del	NP_001317369.1:n.73-20del
NM_001098426.2:c.217-20del MANE Select	NP_001091896.1:n.217-20del
NM_001330440.2:c.73-20del	NP_001317369.1:n.73-20del