Canonical Allele Identifier: CA2639298024

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832144-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832144T>C , CM000679.2:g.63832144T>C	GRCh38
NC_000017.10:g.61909504T>C , CM000679.1:g.61909504T>C	GRCh37
NC_000017.9:g.59263236T>C	NCBI36
NG_053004.1:g.15848A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.3242A>G
ENST00000698013.1:n.3354A>G
ENST00000698014.1:n.3577A>G
ENST00000698015.1:n.2670A>G
ENST00000698016.1:c.*794A>G	ENSP00000513502.1:n.*794A>G
ENST00000698017.1:n.2744A>G
ENST00000698018.1:n.2875A>G
ENST00000698019.1:n.3073A>G
ENST00000698020.1:n.2179A>G
ENST00000698021.1:c.2088A>G
ENST00000698022.1:c.*794A>G	ENSP00000513504.1:n.*794A>G
ENST00000698023.1:n.2773A>G
ENST00000698024.1:n.2635A>G
ENST00000698025.1:n.2795A>G
ENST00000698026.1:n.1686A>G
ENST00000698027.1:c.*1011A>G	ENSP00000513505.1:n.*1011A>G
ENST00000448276.7:c.*794A>G MANE Select	ENSP00000392617.2:n.*794A>G
ENST00000448276.6:c.*794A>G	ENSP00000392617.2:n.*794A>G
ENST00000613943.4:c.2279A>G	ENSP00000483605.1:n.2279A>G
NM_001098426.1:c.*794A>G	NP_001091896.1:n.*794A>G
XM_005257604.2:c.*794A>G	XP_005257661.2:n.*794A>G
NM_001330439.1:c.*794A>G	NP_001317368.1:n.*794A>G
NM_001330440.1:c.*794A>G	NP_001317369.1:n.*794A>G
NM_001098426.2:c.*794A>G MANE Select	NP_001091896.1:n.*794A>G
NM_001330440.2:c.*794A>G	NP_001317369.1:n.*794A>G