Canonical Allele Identifier: CA626857153

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1338375532
• gnomAD v2: 17-61909772-C-CA
• gnomAD v3: 17-63832412-C-CA
• gnomAD v4: 17-63832412-C-CA
• MyVariant Identifiers: chr17:g.61909772_61909773insA (hg19) ; chr17:g.63832412_63832413insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832419dup , CM000679.2:g.63832419dup	GRCh38
NC_000017.10:g.61909779dup , CM000679.1:g.61909779dup	GRCh37
NC_000017.9:g.59263511dup	NCBI36
NG_053004.1:g.15579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2400dup
ENST00000697953.1:n.2973dup
ENST00000698013.1:n.3085dup
ENST00000698014.1:n.3308dup
ENST00000698015.1:n.2401dup
ENST00000698016.1:c.*525dup	ENSP00000513502.1:n.*525dup
ENST00000698017.1:n.2475dup
ENST00000698018.1:n.2606dup
ENST00000698019.1:n.2804dup
ENST00000698020.1:n.1910dup
ENST00000698021.1:c.1819dup
ENST00000698022.1:c.*525dup	ENSP00000513504.1:n.*525dup
ENST00000698023.1:n.2504dup
ENST00000698024.1:n.2366dup
ENST00000698025.1:n.2526dup
ENST00000698026.1:n.1417dup
ENST00000698027.1:c.*742dup	ENSP00000513505.1:n.*742dup
ENST00000698028.1:n.2609dup
ENST00000698029.1:n.3338dup
ENST00000448276.7:c.*525dup MANE Select	ENSP00000392617.2:n.*525dup
ENST00000448276.6:c.*525dup	ENSP00000392617.2:n.*525dup
ENST00000613943.4:c.2010dup	ENSP00000483605.1:n.2010dup
NM_001098426.1:c.*525dup	NP_001091896.1:n.*525dup
XM_005257604.2:c.*525dup	XP_005257661.2:n.*525dup
NM_001330439.1:c.*525dup	NP_001317368.1:n.*525dup
NM_001330440.1:c.*525dup	NP_001317369.1:n.*525dup
NM_001098426.2:c.*525dup MANE Select	NP_001091896.1:n.*525dup
NM_001330440.2:c.*525dup	NP_001317369.1:n.*525dup