Canonical Allele Identifier: CA773993215

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1316323028
• gnomAD v3: 17-63832495-T-TG
• gnomAD v4: 17-63832495-T-TG
• MyVariant Identifiers: chr17:g.61909855_61909856insG (hg19) ; chr17:g.63832495_63832496insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832498dup , CM000679.2:g.63832498dup	GRCh38
NC_000017.10:g.61909858dup , CM000679.1:g.61909858dup	GRCh37
NC_000017.9:g.59263590dup	NCBI36
NG_053004.1:g.15496dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2317dup
ENST00000697953.1:n.2890dup
ENST00000698013.1:n.3002dup
ENST00000698014.1:n.3225dup
ENST00000698015.1:n.2318dup
ENST00000698016.1:c.*442dup	ENSP00000513502.1:n.*442dup
ENST00000698017.1:n.2392dup
ENST00000698018.1:n.2523dup
ENST00000698019.1:n.2721dup
ENST00000698020.1:n.1827dup
ENST00000698021.1:c.1736dup
ENST00000698022.1:c.*442dup	ENSP00000513504.1:n.*442dup
ENST00000698023.1:n.2421dup
ENST00000698024.1:n.2283dup
ENST00000698025.1:n.2443dup
ENST00000698026.1:n.1334dup
ENST00000698027.1:c.*659dup	ENSP00000513505.1:n.*659dup
ENST00000698028.1:n.2526dup
ENST00000698029.1:n.3255dup
ENST00000448276.7:c.*442dup MANE Select	ENSP00000392617.2:n.*442dup
ENST00000448276.6:c.*442dup	ENSP00000392617.2:n.*442dup
ENST00000613943.4:c.1927dup	ENSP00000483605.1:n.1927dup
NM_001098426.1:c.*442dup	NP_001091896.1:n.*442dup
XM_005257604.2:c.*442dup	XP_005257661.2:n.*442dup
NM_001330439.1:c.*442dup	NP_001317368.1:n.*442dup
NM_001330440.1:c.*442dup	NP_001317369.1:n.*442dup
NM_001098426.2:c.*442dup MANE Select	NP_001091896.1:n.*442dup
NM_001330440.2:c.*442dup	NP_001317369.1:n.*442dup