Canonical Allele Identifier: CA2639298448

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832546-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832547_63832548del , CM000679.2:g.63832547_63832548del	GRCh38
NC_000017.10:g.61909907_61909908del , CM000679.1:g.61909907_61909908del	GRCh37
NC_000017.9:g.59263639_59263640del	NCBI36
NG_053004.1:g.15444_15445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2265_2266del
ENST00000697953.1:n.2838_2839del
ENST00000698013.1:n.2950_2951del
ENST00000698014.1:n.3173_3174del
ENST00000698015.1:n.2266_2267del
ENST00000698016.1:c.*390_*391del	ENSP00000513502.1:n.*390_*391del
ENST00000698017.1:n.2340_2341del
ENST00000698018.1:n.2471_2472del
ENST00000698019.1:n.2669_2670del
ENST00000698020.1:n.1775_1776del
ENST00000698021.1:c.1684_1685del
ENST00000698022.1:c.*390_*391del	ENSP00000513504.1:n.*390_*391del
ENST00000698023.1:n.2369_2370del
ENST00000698024.1:n.2231_2232del
ENST00000698025.1:n.2391_2392del
ENST00000698026.1:n.1282_1283del
ENST00000698027.1:c.*607_*608del	ENSP00000513505.1:n.*607_*608del
ENST00000698028.1:n.2474_2475del
ENST00000698029.1:n.3203_3204del
ENST00000448276.7:c.*390_*391del MANE Select	ENSP00000392617.2:n.*390_*391del
ENST00000323347.14:c.*390_*391del	ENSP00000318451.10:n.*390_*391del
ENST00000448276.6:c.*390_*391del	ENSP00000392617.2:n.*390_*391del
ENST00000613943.4:c.1875_1876del	ENSP00000483605.1:n.1875_1876del
NM_001098426.1:c.*390_*391del	NP_001091896.1:n.*390_*391del
XM_005257604.2:c.*390_*391del	XP_005257661.2:n.*390_*391del
NM_001330439.1:c.*390_*391del	NP_001317368.1:n.*390_*391del
NM_001330440.1:c.*390_*391del	NP_001317369.1:n.*390_*391del
NM_001098426.2:c.*390_*391del MANE Select	NP_001091896.1:n.*390_*391del
NM_001330440.2:c.*390_*391del	NP_001317369.1:n.*390_*391del