Canonical Allele Identifier: CA773998696

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1305896441
• gnomAD v3: 17-63837691-TG-T
• gnomAD v4: 17-63837691-TG-T
• MyVariant Identifiers: chr17:g.61915052del (hg19) ; chr17:g.63837692del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837692del , CM000679.2:g.63837692del	GRCh38
NC_000017.10:g.61915052del , CM000679.1:g.61915052del	GRCh37
NC_000017.9:g.59268784del	NCBI36
NG_053004.1:g.10300del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.105-67del
ENST00000698016.1:c.9del	ENSP00000513502.1:p.Met4TrpfsTer11
ENST00000698022.1:c.34-67del	ENSP00000513504.1:n.34-67del
ENST00000698027.1:c.9del	ENSP00000513505.1:p.Met4TrpfsTer11
ENST00000448276.7:c.217-67del MANE Select	ENSP00000392617.2:n.217-67del
ENST00000225742.13:c.-9-67del	ENSP00000225742.9:n.-9-67del
ENST00000323347.14:c.73-67del	ENSP00000318451.10:n.73-67del
ENST00000448276.6:c.217-67del	ENSP00000392617.2:n.217-67del
ENST00000577686.1:n.53-455del
ENST00000584400.5:c.217-455del	ENSP00000464503.1:n.217-455del
ENST00000613943.4:c.106-67del	ENSP00000483605.1:n.106-67del
NM_001098426.1:c.217-67del	NP_001091896.1:n.217-67del
XM_005257604.2:c.-9-67del	XP_005257661.2:n.-9-67del
NM_001330439.1:c.-9-67del	NP_001317368.1:n.-9-67del
NM_001330440.1:c.73-67del	NP_001317369.1:n.73-67del
NM_001098426.2:c.217-67del MANE Select	NP_001091896.1:n.217-67del
NM_001330440.2:c.73-67del	NP_001317369.1:n.73-67del