Canonical Allele Identifier: CA2270103389

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040202387

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832361_63832365dup , CM000679.2:g.63832361_63832365dup	GRCh38
NC_000017.10:g.61909721_61909725dup , CM000679.1:g.61909721_61909725dup	GRCh37
NC_000017.9:g.59263453_59263457dup	NCBI36
NG_053004.1:g.15633_15637dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2454_2458dup
ENST00000697953.1:n.3027_3031dup
ENST00000698013.1:n.3139_3143dup
ENST00000698014.1:n.3362_3366dup
ENST00000698015.1:n.2455_2459dup
ENST00000698016.1:c.*579_*583dup	ENSP00000513502.1:n.*579_*583dup
ENST00000698017.1:n.2529_2533dup
ENST00000698018.1:n.2660_2664dup
ENST00000698019.1:n.2858_2862dup
ENST00000698020.1:n.1964_1968dup
ENST00000698021.1:c.1873_1877dup
ENST00000698022.1:c.*579_*583dup	ENSP00000513504.1:n.*579_*583dup
ENST00000698023.1:n.2558_2562dup
ENST00000698024.1:n.2420_2424dup
ENST00000698025.1:n.2580_2584dup
ENST00000698026.1:n.1471_1475dup
ENST00000698027.1:c.*796_*800dup	ENSP00000513505.1:n.*796_*800dup
ENST00000698028.1:n.2663_2667dup
ENST00000698029.1:n.3392_3396dup
ENST00000448276.7:c.*579_*583dup MANE Select	ENSP00000392617.2:n.*579_*583dup
ENST00000448276.6:c.*579_*583dup	ENSP00000392617.2:n.*579_*583dup
ENST00000613943.4:c.2064_2068dup	ENSP00000483605.1:n.2064_2068dup
NM_001098426.1:c.*579_*583dup	NP_001091896.1:n.*579_*583dup
XM_005257604.2:c.*579_*583dup	XP_005257661.2:n.*579_*583dup
NM_001330439.1:c.*579_*583dup	NP_001317368.1:n.*579_*583dup
NM_001330440.1:c.*579_*583dup	NP_001317369.1:n.*579_*583dup
NM_001098426.2:c.*579_*583dup MANE Select	NP_001091896.1:n.*579_*583dup
NM_001330440.2:c.*579_*583dup	NP_001317369.1:n.*579_*583dup