Canonical Allele Identifier: CA2639298107

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832196-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832199_63832200del , CM000679.2:g.63832199_63832200del	GRCh38
NC_000017.10:g.61909559_61909560del , CM000679.1:g.61909559_61909560del	GRCh37
NC_000017.9:g.59263291_59263292del	NCBI36
NG_053004.1:g.15794_15795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2615_2616del
ENST00000697953.1:n.3188_3189del
ENST00000698013.1:n.3300_3301del
ENST00000698014.1:n.3523_3524del
ENST00000698015.1:n.2616_2617del
ENST00000698016.1:c.*740_*741del	ENSP00000513502.1:n.*740_*741del
ENST00000698017.1:n.2690_2691del
ENST00000698018.1:n.2821_2822del
ENST00000698019.1:n.3019_3020del
ENST00000698020.1:n.2125_2126del
ENST00000698021.1:c.2034_2035del
ENST00000698022.1:c.*740_*741del	ENSP00000513504.1:n.*740_*741del
ENST00000698023.1:n.2719_2720del
ENST00000698024.1:n.2581_2582del
ENST00000698025.1:n.2741_2742del
ENST00000698026.1:n.1632_1633del
ENST00000698027.1:c.*957_*958del	ENSP00000513505.1:n.*957_*958del
ENST00000698028.1:n.2824_2825del
ENST00000448276.7:c.*740_*741del MANE Select	ENSP00000392617.2:n.*740_*741del
ENST00000448276.6:c.*740_*741del	ENSP00000392617.2:n.*740_*741del
ENST00000613943.4:c.2225_2226del	ENSP00000483605.1:n.2225_2226del
NM_001098426.1:c.*740_*741del	NP_001091896.1:n.*740_*741del
XM_005257604.2:c.*740_*741del	XP_005257661.2:n.*740_*741del
NM_001330439.1:c.*740_*741del	NP_001317368.1:n.*740_*741del
NM_001330440.1:c.*740_*741del	NP_001317369.1:n.*740_*741del
NM_001098426.2:c.*740_*741del MANE Select	NP_001091896.1:n.*740_*741del
NM_001330440.2:c.*740_*741del	NP_001317369.1:n.*740_*741del