Canonical Allele Identifier: CA2810124106
Gene: SMARCD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63832331C>A , CM000679.2:g.63832331C>A GRCh38
NC_000017.10:g.61909691C>A , CM000679.1:g.61909691C>A GRCh37
NC_000017.9:g.59263423C>A NCBI36
NG_053004.1:g.15661G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584483.6:n.2482G>T
ENST00000697953.1:n.3055G>T
ENST00000698013.1:n.3167G>T
ENST00000698014.1:n.3390G>T
ENST00000698015.1:n.2483G>T
ENST00000698016.1:c.*607G>T ENSP00000513502.1:n.*607G>T
ENST00000698017.1:n.2557G>T
ENST00000698018.1:n.2688G>T
ENST00000698019.1:n.2886G>T
ENST00000698020.1:n.1992G>T
ENST00000698021.1:c.1901G>T
ENST00000698022.1:c.*607G>T ENSP00000513504.1:n.*607G>T
ENST00000698023.1:n.2586G>T
ENST00000698024.1:n.2448G>T
ENST00000698025.1:n.2608G>T
ENST00000698026.1:n.1499G>T
ENST00000698027.1:c.*824G>T ENSP00000513505.1:n.*824G>T
ENST00000698028.1:n.2691G>T
ENST00000698029.1:n.3420G>T
ENST00000448276.7:c.*607G>T MANE Select ENSP00000392617.2:n.*607G>T
ENST00000448276.6:c.*607G>T ENSP00000392617.2:n.*607G>T
ENST00000613943.4:c.2092G>T ENSP00000483605.1:n.2092G>T
NM_001098426.1:c.*607G>T NP_001091896.1:n.*607G>T
XM_005257604.2:c.*607G>T XP_005257661.2:n.*607G>T
NM_001330439.1:c.*607G>T NP_001317368.1:n.*607G>T
NM_001330440.1:c.*607G>T NP_001317369.1:n.*607G>T
NM_001098426.2:c.*607G>T MANE Select NP_001091896.1:n.*607G>T
NM_001330440.2:c.*607G>T NP_001317369.1:n.*607G>T