Canonical Allele Identifier: CA2639298360

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832449-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832449A>C , CM000679.2:g.63832449A>C	GRCh38
NC_000017.10:g.61909809A>C , CM000679.1:g.61909809A>C	GRCh37
NC_000017.9:g.59263541A>C	NCBI36
NG_053004.1:g.15543T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2364T>G
ENST00000697953.1:n.2937T>G
ENST00000698013.1:n.3049T>G
ENST00000698014.1:n.3272T>G
ENST00000698015.1:n.2365T>G
ENST00000698016.1:c.*489T>G	ENSP00000513502.1:n.*489T>G
ENST00000698017.1:n.2439T>G
ENST00000698018.1:n.2570T>G
ENST00000698019.1:n.2768T>G
ENST00000698020.1:n.1874T>G
ENST00000698021.1:c.1783T>G
ENST00000698022.1:c.*489T>G	ENSP00000513504.1:n.*489T>G
ENST00000698023.1:n.2468T>G
ENST00000698024.1:n.2330T>G
ENST00000698025.1:n.2490T>G
ENST00000698026.1:n.1381T>G
ENST00000698027.1:c.*706T>G	ENSP00000513505.1:n.*706T>G
ENST00000698028.1:n.2573T>G
ENST00000698029.1:n.3302T>G
ENST00000448276.7:c.*489T>G MANE Select	ENSP00000392617.2:n.*489T>G
ENST00000448276.6:c.*489T>G	ENSP00000392617.2:n.*489T>G
ENST00000613943.4:c.1974T>G	ENSP00000483605.1:n.1974T>G
NM_001098426.1:c.*489T>G	NP_001091896.1:n.*489T>G
XM_005257604.2:c.*489T>G	XP_005257661.2:n.*489T>G
NM_001330439.1:c.*489T>G	NP_001317368.1:n.*489T>G
NM_001330440.1:c.*489T>G	NP_001317369.1:n.*489T>G
NM_001098426.2:c.*489T>G MANE Select	NP_001091896.1:n.*489T>G
NM_001330440.2:c.*489T>G	NP_001317369.1:n.*489T>G