Canonical Allele Identifier: CA626857158

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1448471011
• gnomAD v2: 17-61909897-AG-A
• gnomAD v3: 17-63832537-AG-A
• gnomAD v4: 17-63832537-AG-A
• MyVariant Identifiers: chr17:g.61909898del (hg19) ; chr17:g.63832538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832539del , CM000679.2:g.63832539del	GRCh38
NC_000017.10:g.61909899del , CM000679.1:g.61909899del	GRCh37
NC_000017.9:g.59263631del	NCBI36
NG_053004.1:g.15454del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2275del
ENST00000697953.1:n.2848del
ENST00000698013.1:n.2960del
ENST00000698014.1:n.3183del
ENST00000698015.1:n.2276del
ENST00000698016.1:c.*400del	ENSP00000513502.1:n.*400del
ENST00000698017.1:n.2350del
ENST00000698018.1:n.2481del
ENST00000698019.1:n.2679del
ENST00000698020.1:n.1785del
ENST00000698021.1:c.1694del
ENST00000698022.1:c.*400del	ENSP00000513504.1:n.*400del
ENST00000698023.1:n.2379del
ENST00000698024.1:n.2241del
ENST00000698025.1:n.2401del
ENST00000698026.1:n.1292del
ENST00000698027.1:c.*617del	ENSP00000513505.1:n.*617del
ENST00000698028.1:n.2484del
ENST00000698029.1:n.3213del
ENST00000448276.7:c.*400del MANE Select	ENSP00000392617.2:n.*400del
ENST00000323347.14:c.*400del	ENSP00000318451.10:n.*400del
ENST00000448276.6:c.*400del	ENSP00000392617.2:n.*400del
ENST00000613943.4:c.1885del	ENSP00000483605.1:n.1885del
NM_001098426.1:c.*400del	NP_001091896.1:n.*400del
XM_005257604.2:c.*400del	XP_005257661.2:n.*400del
NM_001330439.1:c.*400del	NP_001317368.1:n.*400del
NM_001330440.1:c.*400del	NP_001317369.1:n.*400del
NM_001098426.2:c.*400del MANE Select	NP_001091896.1:n.*400del
NM_001330440.2:c.*400del	NP_001317369.1:n.*400del