Canonical Allele Identifier: CA2270103116

Gene: SMARCD2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832537_63832538delinsAG , CM000679.2:g.63832537_63832538delinsAG	GRCh38
NC_000017.10:g.61909897_61909898delinsAG , CM000679.1:g.61909897_61909898delinsAG	GRCh37
NC_000017.9:g.59263629_59263630delinsAG	NCBI36
NG_053004.1:g.15454_15455delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2275_2276delinsCT
ENST00000697953.1:n.2848_2849delinsCT
ENST00000698013.1:n.2960_2961delinsCT
ENST00000698014.1:n.3183_3184delinsCT
ENST00000698015.1:n.2276_2277delinsCT
ENST00000698016.1:c.*400_*401delinsCT	ENSP00000513502.1:n.*400_*401delinsCT
ENST00000698017.1:n.2350_2351delinsCT
ENST00000698018.1:n.2481_2482delinsCT
ENST00000698019.1:n.2679_2680delinsCT
ENST00000698020.1:n.1785_1786delinsCT
ENST00000698021.1:c.1694_1695delinsCT
ENST00000698022.1:c.*400_*401delinsCT	ENSP00000513504.1:n.*400_*401delinsCT
ENST00000698023.1:n.2379_2380delinsCT
ENST00000698024.1:n.2241_2242delinsCT
ENST00000698025.1:n.2401_2402delinsCT
ENST00000698026.1:n.1292_1293delinsCT
ENST00000698027.1:c.*617_*618delinsCT	ENSP00000513505.1:n.*617_*618delinsCT
ENST00000698028.1:n.2484_2485delinsCT
ENST00000698029.1:n.3213_3214delinsCT
ENST00000448276.7:c.*400_*401delinsCT MANE Select	ENSP00000392617.2:n.*400_*401delinsCT
ENST00000323347.14:c.*400_*401delinsCT	ENSP00000318451.10:n.*400_*401delinsCT
ENST00000448276.6:c.*400_*401delinsCT	ENSP00000392617.2:n.*400_*401delinsCT
ENST00000613943.4:c.1885_1886delinsCT	ENSP00000483605.1:n.1885_1886delinsCT
NM_001098426.1:c.*400_*401delinsCT	NP_001091896.1:n.*400_*401delinsCT
XM_005257604.2:c.*400_*401delinsCT	XP_005257661.2:n.*400_*401delinsCT
NM_001330439.1:c.*400_*401delinsCT	NP_001317368.1:n.*400_*401delinsCT
NM_001330440.1:c.*400_*401delinsCT	NP_001317369.1:n.*400_*401delinsCT
NM_001098426.2:c.*400_*401delinsCT MANE Select	NP_001091896.1:n.*400_*401delinsCT
NM_001330440.2:c.*400_*401delinsCT	NP_001317369.1:n.*400_*401delinsCT