Canonical Allele Identifier: CA292951822
Gene: SMARCD2 HGNC NCBI

Linked Data

dbSNP Id: rs866282349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832508A>G , CM000679.2:g.63832508A>G GRCh38
NC_000017.10:g.61909868A>G , CM000679.1:g.61909868A>G GRCh37
NC_000017.9:g.59263600A>G NCBI36
NG_053004.1:g.15484T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584483.6:n.2305T>C
ENST00000697953.1:n.2878T>C
ENST00000698013.1:n.2990T>C
ENST00000698014.1:n.3213T>C
ENST00000698015.1:n.2306T>C
ENST00000698016.1:c.*430T>C ENSP00000513502.1:n.*430T>C
ENST00000698017.1:n.2380T>C
ENST00000698018.1:n.2511T>C
ENST00000698019.1:n.2709T>C
ENST00000698020.1:n.1815T>C
ENST00000698021.1:c.1724T>C
ENST00000698022.1:c.*430T>C ENSP00000513504.1:n.*430T>C
ENST00000698023.1:n.2409T>C
ENST00000698024.1:n.2271T>C
ENST00000698025.1:n.2431T>C
ENST00000698026.1:n.1322T>C
ENST00000698027.1:c.*647T>C ENSP00000513505.1:n.*647T>C
ENST00000698028.1:n.2514T>C
ENST00000698029.1:n.3243T>C
ENST00000448276.7:c.*430T>C MANE Select ENSP00000392617.2:n.*430T>C
ENST00000323347.14:c.*430T>C ENSP00000318451.10:n.*430T>C
ENST00000448276.6:c.*430T>C ENSP00000392617.2:n.*430T>C
ENST00000613943.4:c.1915T>C ENSP00000483605.1:n.1915T>C
NM_001098426.1:c.*430T>C NP_001091896.1:n.*430T>C
XM_005257604.2:c.*430T>C XP_005257661.2:n.*430T>C
NM_001330439.1:c.*430T>C NP_001317368.1:n.*430T>C
NM_001330440.1:c.*430T>C NP_001317369.1:n.*430T>C
NM_001098426.2:c.*430T>C MANE Select NP_001091896.1:n.*430T>C
NM_001330440.2:c.*430T>C NP_001317369.1:n.*430T>C