Canonical Allele Identifier: CA773993194

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1249193107
• gnomAD v3: 17-63832457-C-CA
• gnomAD v4: 17-63832457-C-CA
• MyVariant Identifiers: chr17:g.61909817_61909818insA (hg19) ; chr17:g.63832457_63832458insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832460dup , CM000679.2:g.63832460dup	GRCh38
NC_000017.10:g.61909820dup , CM000679.1:g.61909820dup	GRCh37
NC_000017.9:g.59263552dup	NCBI36
NG_053004.1:g.15534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2355dup
ENST00000697953.1:n.2928dup
ENST00000698013.1:n.3040dup
ENST00000698014.1:n.3263dup
ENST00000698015.1:n.2356dup
ENST00000698016.1:c.*480dup	ENSP00000513502.1:n.*480dup
ENST00000698017.1:n.2430dup
ENST00000698018.1:n.2561dup
ENST00000698019.1:n.2759dup
ENST00000698020.1:n.1865dup
ENST00000698021.1:c.1774dup
ENST00000698022.1:c.*480dup	ENSP00000513504.1:n.*480dup
ENST00000698023.1:n.2459dup
ENST00000698024.1:n.2321dup
ENST00000698025.1:n.2481dup
ENST00000698026.1:n.1372dup
ENST00000698027.1:c.*697dup	ENSP00000513505.1:n.*697dup
ENST00000698028.1:n.2564dup
ENST00000698029.1:n.3293dup
ENST00000448276.7:c.*480dup MANE Select	ENSP00000392617.2:n.*480dup
ENST00000448276.6:c.*480dup	ENSP00000392617.2:n.*480dup
ENST00000613943.4:c.1965dup	ENSP00000483605.1:n.1965dup
NM_001098426.1:c.*480dup	NP_001091896.1:n.*480dup
XM_005257604.2:c.*480dup	XP_005257661.2:n.*480dup
NM_001330439.1:c.*480dup	NP_001317368.1:n.*480dup
NM_001330440.1:c.*480dup	NP_001317369.1:n.*480dup
NM_001098426.2:c.*480dup MANE Select	NP_001091896.1:n.*480dup
NM_001330440.2:c.*480dup	NP_001317369.1:n.*480dup