Canonical Allele Identifier: CA2639298259

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832345-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832345T>C , CM000679.2:g.63832345T>C	GRCh38
NC_000017.10:g.61909705T>C , CM000679.1:g.61909705T>C	GRCh37
NC_000017.9:g.59263437T>C	NCBI36
NG_053004.1:g.15647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2468A>G
ENST00000697953.1:n.3041A>G
ENST00000698013.1:n.3153A>G
ENST00000698014.1:n.3376A>G
ENST00000698015.1:n.2469A>G
ENST00000698016.1:c.*593A>G	ENSP00000513502.1:n.*593A>G
ENST00000698017.1:n.2543A>G
ENST00000698018.1:n.2674A>G
ENST00000698019.1:n.2872A>G
ENST00000698020.1:n.1978A>G
ENST00000698021.1:c.1887A>G
ENST00000698022.1:c.*593A>G	ENSP00000513504.1:n.*593A>G
ENST00000698023.1:n.2572A>G
ENST00000698024.1:n.2434A>G
ENST00000698025.1:n.2594A>G
ENST00000698026.1:n.1485A>G
ENST00000698027.1:c.*810A>G	ENSP00000513505.1:n.*810A>G
ENST00000698028.1:n.2677A>G
ENST00000698029.1:n.3406A>G
ENST00000448276.7:c.*593A>G MANE Select	ENSP00000392617.2:n.*593A>G
ENST00000448276.6:c.*593A>G	ENSP00000392617.2:n.*593A>G
ENST00000613943.4:c.2078A>G	ENSP00000483605.1:n.2078A>G
NM_001098426.1:c.*593A>G	NP_001091896.1:n.*593A>G
XM_005257604.2:c.*593A>G	XP_005257661.2:n.*593A>G
NM_001330439.1:c.*593A>G	NP_001317368.1:n.*593A>G
NM_001330440.1:c.*593A>G	NP_001317369.1:n.*593A>G
NM_001098426.2:c.*593A>G MANE Select	NP_001091896.1:n.*593A>G
NM_001330440.2:c.*593A>G	NP_001317369.1:n.*593A>G