Canonical Allele Identifier: CA2270103099

Gene: SMARCD2

Linked Data

• dbSNP Id: rs2040204446
• gnomAD v4: 17-63832484-AGCAGCAAGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832486_63832496del , CM000679.2:g.63832486_63832496del	GRCh38
NC_000017.10:g.61909846_61909856del , CM000679.1:g.61909846_61909856del	GRCh37
NC_000017.9:g.59263578_59263588del	NCBI36
NG_053004.1:g.15497_15507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2318_2328del
ENST00000697953.1:n.2891_2901del
ENST00000698013.1:n.3003_3013del
ENST00000698014.1:n.3226_3236del
ENST00000698015.1:n.2319_2329del
ENST00000698016.1:c.*443_*453del	ENSP00000513502.1:n.*443_*453del
ENST00000698017.1:n.2393_2403del
ENST00000698018.1:n.2524_2534del
ENST00000698019.1:n.2722_2732del
ENST00000698020.1:n.1828_1838del
ENST00000698021.1:c.1737_1747del
ENST00000698022.1:c.*443_*453del	ENSP00000513504.1:n.*443_*453del
ENST00000698023.1:n.2422_2432del
ENST00000698024.1:n.2284_2294del
ENST00000698025.1:n.2444_2454del
ENST00000698026.1:n.1335_1345del
ENST00000698027.1:c.*660_*670del	ENSP00000513505.1:n.*660_*670del
ENST00000698028.1:n.2527_2537del
ENST00000698029.1:n.3256_3266del
ENST00000448276.7:c.*443_*453del MANE Select	ENSP00000392617.2:n.*443_*453del
ENST00000448276.6:c.*443_*453del	ENSP00000392617.2:n.*443_*453del
ENST00000613943.4:c.1928_1938del	ENSP00000483605.1:n.1928_1938del
NM_001098426.1:c.*443_*453del	NP_001091896.1:n.*443_*453del
XM_005257604.2:c.*443_*453del	XP_005257661.2:n.*443_*453del
NM_001330439.1:c.*443_*453del	NP_001317368.1:n.*443_*453del
NM_001330440.1:c.*443_*453del	NP_001317369.1:n.*443_*453del
NM_001098426.2:c.*443_*453del MANE Select	NP_001091896.1:n.*443_*453del
NM_001330440.2:c.*443_*453del	NP_001317369.1:n.*443_*453del