Canonical Allele Identifier: CA2639298380

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832470-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832470G>C , CM000679.2:g.63832470G>C	GRCh38
NC_000017.10:g.61909830G>C , CM000679.1:g.61909830G>C	GRCh37
NC_000017.9:g.59263562G>C	NCBI36
NG_053004.1:g.15522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2343C>G
ENST00000697953.1:n.2916C>G
ENST00000698013.1:n.3028C>G
ENST00000698014.1:n.3251C>G
ENST00000698015.1:n.2344C>G
ENST00000698016.1:c.*468C>G	ENSP00000513502.1:n.*468C>G
ENST00000698017.1:n.2418C>G
ENST00000698018.1:n.2549C>G
ENST00000698019.1:n.2747C>G
ENST00000698020.1:n.1853C>G
ENST00000698021.1:c.1762C>G
ENST00000698022.1:c.*468C>G	ENSP00000513504.1:n.*468C>G
ENST00000698023.1:n.2447C>G
ENST00000698024.1:n.2309C>G
ENST00000698025.1:n.2469C>G
ENST00000698026.1:n.1360C>G
ENST00000698027.1:c.*685C>G	ENSP00000513505.1:n.*685C>G
ENST00000698028.1:n.2552C>G
ENST00000698029.1:n.3281C>G
ENST00000448276.7:c.*468C>G MANE Select	ENSP00000392617.2:n.*468C>G
ENST00000448276.6:c.*468C>G	ENSP00000392617.2:n.*468C>G
ENST00000613943.4:c.1953C>G	ENSP00000483605.1:n.1953C>G
NM_001098426.1:c.*468C>G	NP_001091896.1:n.*468C>G
XM_005257604.2:c.*468C>G	XP_005257661.2:n.*468C>G
NM_001330439.1:c.*468C>G	NP_001317368.1:n.*468C>G
NM_001330440.1:c.*468C>G	NP_001317369.1:n.*468C>G
NM_001098426.2:c.*468C>G MANE Select	NP_001091896.1:n.*468C>G
NM_001330440.2:c.*468C>G	NP_001317369.1:n.*468C>G