Canonical Allele Identifier: CA2270103211

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1598356069
• gnomAD v4: 17-63832239-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832239A>C , CM000679.2:g.63832239A>C	GRCh38
NC_000017.10:g.61909599A>C , CM000679.1:g.61909599A>C	GRCh37
NC_000017.9:g.59263331A>C	NCBI36
NG_053004.1:g.15753T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2574T>G
ENST00000697953.1:n.3147T>G
ENST00000698013.1:n.3259T>G
ENST00000698014.1:n.3482T>G
ENST00000698015.1:n.2575T>G
ENST00000698016.1:c.*699T>G	ENSP00000513502.1:n.*699T>G
ENST00000698017.1:n.2649T>G
ENST00000698018.1:n.2780T>G
ENST00000698019.1:n.2978T>G
ENST00000698020.1:n.2084T>G
ENST00000698021.1:c.1993T>G
ENST00000698022.1:c.*699T>G	ENSP00000513504.1:n.*699T>G
ENST00000698023.1:n.2678T>G
ENST00000698024.1:n.2540T>G
ENST00000698025.1:n.2700T>G
ENST00000698026.1:n.1591T>G
ENST00000698027.1:c.*916T>G	ENSP00000513505.1:n.*916T>G
ENST00000698028.1:n.2783T>G
ENST00000448276.7:c.*699T>G MANE Select	ENSP00000392617.2:n.*699T>G
ENST00000448276.6:c.*699T>G	ENSP00000392617.2:n.*699T>G
ENST00000613943.4:c.2184T>G	ENSP00000483605.1:n.2184T>G
NM_001098426.1:c.*699T>G	NP_001091896.1:n.*699T>G
XM_005257604.2:c.*699T>G	XP_005257661.2:n.*699T>G
NM_001330439.1:c.*699T>G	NP_001317368.1:n.*699T>G
NM_001330440.1:c.*699T>G	NP_001317369.1:n.*699T>G
NM_001098426.2:c.*699T>G MANE Select	NP_001091896.1:n.*699T>G
NM_001330440.2:c.*699T>G	NP_001317369.1:n.*699T>G