Canonical Allele Identifier: CA2639298167

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832242-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832242T>C , CM000679.2:g.63832242T>C	GRCh38
NC_000017.10:g.61909602T>C , CM000679.1:g.61909602T>C	GRCh37
NC_000017.9:g.59263334T>C	NCBI36
NG_053004.1:g.15750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2571A>G
ENST00000697953.1:n.3144A>G
ENST00000698013.1:n.3256A>G
ENST00000698014.1:n.3479A>G
ENST00000698015.1:n.2572A>G
ENST00000698016.1:c.*696A>G	ENSP00000513502.1:n.*696A>G
ENST00000698017.1:n.2646A>G
ENST00000698018.1:n.2777A>G
ENST00000698019.1:n.2975A>G
ENST00000698020.1:n.2081A>G
ENST00000698021.1:c.1990A>G
ENST00000698022.1:c.*696A>G	ENSP00000513504.1:n.*696A>G
ENST00000698023.1:n.2675A>G
ENST00000698024.1:n.2537A>G
ENST00000698025.1:n.2697A>G
ENST00000698026.1:n.1588A>G
ENST00000698027.1:c.*913A>G	ENSP00000513505.1:n.*913A>G
ENST00000698028.1:n.2780A>G
ENST00000448276.7:c.*696A>G MANE Select	ENSP00000392617.2:n.*696A>G
ENST00000448276.6:c.*696A>G	ENSP00000392617.2:n.*696A>G
ENST00000613943.4:c.2181A>G	ENSP00000483605.1:n.2181A>G
NM_001098426.1:c.*696A>G	NP_001091896.1:n.*696A>G
XM_005257604.2:c.*696A>G	XP_005257661.2:n.*696A>G
NM_001330439.1:c.*696A>G	NP_001317368.1:n.*696A>G
NM_001330440.1:c.*696A>G	NP_001317369.1:n.*696A>G
NM_001098426.2:c.*696A>G MANE Select	NP_001091896.1:n.*696A>G
NM_001330440.2:c.*696A>G	NP_001317369.1:n.*696A>G