Canonical Allele Identifier: CA2810124114

Gene: SMARCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832537A>G , CM000679.2:g.63832537A>G	GRCh38
NC_000017.10:g.61909897A>G , CM000679.1:g.61909897A>G	GRCh37
NC_000017.9:g.59263629A>G	NCBI36
NG_053004.1:g.15455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2276T>C
ENST00000697953.1:n.2849T>C
ENST00000698013.1:n.2961T>C
ENST00000698014.1:n.3184T>C
ENST00000698015.1:n.2277T>C
ENST00000698016.1:c.*401T>C	ENSP00000513502.1:n.*401T>C
ENST00000698017.1:n.2351T>C
ENST00000698018.1:n.2482T>C
ENST00000698019.1:n.2680T>C
ENST00000698020.1:n.1786T>C
ENST00000698021.1:c.1695T>C
ENST00000698022.1:c.*401T>C	ENSP00000513504.1:n.*401T>C
ENST00000698023.1:n.2380T>C
ENST00000698024.1:n.2242T>C
ENST00000698025.1:n.2402T>C
ENST00000698026.1:n.1293T>C
ENST00000698027.1:c.*618T>C	ENSP00000513505.1:n.*618T>C
ENST00000698028.1:n.2485T>C
ENST00000698029.1:n.3214T>C
ENST00000448276.7:c.*401T>C MANE Select	ENSP00000392617.2:n.*401T>C
ENST00000323347.14:c.*401T>C	ENSP00000318451.10:n.*401T>C
ENST00000448276.6:c.*401T>C	ENSP00000392617.2:n.*401T>C
ENST00000613943.4:c.1886T>C	ENSP00000483605.1:n.1886T>C
NM_001098426.1:c.*401T>C	NP_001091896.1:n.*401T>C
XM_005257604.2:c.*401T>C	XP_005257661.2:n.*401T>C
NM_001330439.1:c.*401T>C	NP_001317368.1:n.*401T>C
NM_001330440.1:c.*401T>C	NP_001317369.1:n.*401T>C
NM_001098426.2:c.*401T>C MANE Select	NP_001091896.1:n.*401T>C
NM_001330440.2:c.*401T>C	NP_001317369.1:n.*401T>C