Canonical Allele Identifier: CA292951679

Gene: SMARCD2

Linked Data

• dbSNP Id: rs557905856
• gnomAD v2: 17-61909684-TGGC-T
• gnomAD v3: 17-63832324-TGGC-T
• gnomAD v4: 17-63832324-TGGC-T
• MyVariant Identifiers: chr17:g.61909685_61909687del (hg19) ; chr17:g.63832325_63832327del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832328_63832330del , CM000679.2:g.63832328_63832330del	GRCh38
NC_000017.10:g.61909688_61909690del , CM000679.1:g.61909688_61909690del	GRCh37
NC_000017.9:g.59263420_59263422del	NCBI36
NG_053004.1:g.15665_15667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2486_2488del
ENST00000697953.1:n.3059_3061del
ENST00000698013.1:n.3171_3173del
ENST00000698014.1:n.3394_3396del
ENST00000698015.1:n.2487_2489del
ENST00000698016.1:c.*611_*613del	ENSP00000513502.1:n.*611_*613del
ENST00000698017.1:n.2561_2563del
ENST00000698018.1:n.2692_2694del
ENST00000698019.1:n.2890_2892del
ENST00000698020.1:n.1996_1998del
ENST00000698021.1:c.1905_1907del
ENST00000698022.1:c.*611_*613del	ENSP00000513504.1:n.*611_*613del
ENST00000698023.1:n.2590_2592del
ENST00000698024.1:n.2452_2454del
ENST00000698025.1:n.2612_2614del
ENST00000698026.1:n.1503_1505del
ENST00000698027.1:c.*828_*830del	ENSP00000513505.1:n.*828_*830del
ENST00000698028.1:n.2695_2697del
ENST00000698029.1:n.3424_3426del
ENST00000448276.7:c.*611_*613del MANE Select	ENSP00000392617.2:n.*611_*613del
ENST00000448276.6:c.*611_*613del	ENSP00000392617.2:n.*611_*613del
ENST00000613943.4:c.2096_2098del	ENSP00000483605.1:n.2096_2098del
NM_001098426.1:c.*611_*613del	NP_001091896.1:n.*611_*613del
XM_005257604.2:c.*611_*613del	XP_005257661.2:n.*611_*613del
NM_001330439.1:c.*611_*613del	NP_001317368.1:n.*611_*613del
NM_001330440.1:c.*611_*613del	NP_001317369.1:n.*611_*613del
NM_001098426.2:c.*611_*613del MANE Select	NP_001091896.1:n.*611_*613del
NM_001330440.2:c.*611_*613del	NP_001317369.1:n.*611_*613del