Canonical Allele Identifier: CA2270103132

Gene: SMARCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832564_63832565delinsTC , CM000679.2:g.63832564_63832565delinsTC	GRCh38
NC_000017.10:g.61909924_61909925delinsTC , CM000679.1:g.61909924_61909925delinsTC	GRCh37
NC_000017.9:g.59263656_59263657delinsTC	NCBI36
NG_053004.1:g.15427_15428delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2248_2249delinsGA
ENST00000697953.1:n.2821_2822delinsGA
ENST00000698013.1:n.2933_2934delinsGA
ENST00000698014.1:n.3156_3157delinsGA
ENST00000698015.1:n.2249_2250delinsGA
ENST00000698016.1:c.*373_*374delinsGA	ENSP00000513502.1:n.*373_*374delinsGA
ENST00000698017.1:n.2323_2324delinsGA
ENST00000698018.1:n.2454_2455delinsGA
ENST00000698019.1:n.2652_2653delinsGA
ENST00000698020.1:n.1758_1759delinsGA
ENST00000698021.1:c.1667_1668delinsGA
ENST00000698022.1:c.*373_*374delinsGA	ENSP00000513504.1:n.*373_*374delinsGA
ENST00000698023.1:n.2352_2353delinsGA
ENST00000698024.1:n.2214_2215delinsGA
ENST00000698025.1:n.2374_2375delinsGA
ENST00000698026.1:n.1265_1266delinsGA
ENST00000698027.1:c.*590_*591delinsGA	ENSP00000513505.1:n.*590_*591delinsGA
ENST00000698028.1:n.2457_2458delinsGA
ENST00000698029.1:n.3186_3187delinsGA
ENST00000448276.7:c.*373_*374delinsGA MANE Select	ENSP00000392617.2:n.*373_*374delinsGA
ENST00000323347.14:c.*373_*374delinsGA	ENSP00000318451.10:n.*373_*374delinsGA
ENST00000448276.6:c.*373_*374delinsGA	ENSP00000392617.2:n.*373_*374delinsGA
ENST00000613943.4:c.1858_1859delinsGA	ENSP00000483605.1:n.1858_1859delinsGA
NM_001098426.1:c.*373_*374delinsGA	NP_001091896.1:n.*373_*374delinsGA
XM_005257604.2:c.*373_*374delinsGA	XP_005257661.2:n.*373_*374delinsGA
NM_001330439.1:c.*373_*374delinsGA	NP_001317368.1:n.*373_*374delinsGA
NM_001330440.1:c.*373_*374delinsGA	NP_001317369.1:n.*373_*374delinsGA
NM_001098426.2:c.*373_*374delinsGA MANE Select	NP_001091896.1:n.*373_*374delinsGA
NM_001330440.2:c.*373_*374delinsGA	NP_001317369.1:n.*373_*374delinsGA