Canonical Allele Identifier: CA2639298447

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832546-C-CTGGGCTGCACCTCCTCTTCCTAGCCCAGCTCCCCAGAGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832547_63832587dup , CM000679.2:g.63832547_63832587dup	GRCh38
NC_000017.10:g.61909907_61909947dup , CM000679.1:g.61909907_61909947dup	GRCh37
NC_000017.9:g.59263639_59263679dup	NCBI36
NG_053004.1:g.15405_15445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2226_2266dup
ENST00000697953.1:n.2799_2839dup
ENST00000698013.1:n.2911_2951dup
ENST00000698014.1:n.3134_3174dup
ENST00000698015.1:n.2227_2267dup
ENST00000698016.1:c.*351_*391dup	ENSP00000513502.1:n.*351_*391dup
ENST00000698017.1:n.2301_2341dup
ENST00000698018.1:n.2432_2472dup
ENST00000698019.1:n.2630_2670dup
ENST00000698020.1:n.1736_1776dup
ENST00000698021.1:c.1645_1685dup
ENST00000698022.1:c.*351_*391dup	ENSP00000513504.1:n.*351_*391dup
ENST00000698023.1:n.2330_2370dup
ENST00000698024.1:n.2192_2232dup
ENST00000698025.1:n.2352_2392dup
ENST00000698026.1:n.1243_1283dup
ENST00000698027.1:c.*568_*608dup	ENSP00000513505.1:n.*568_*608dup
ENST00000698028.1:n.2435_2475dup
ENST00000698029.1:n.3164_3204dup
ENST00000448276.7:c.*351_*391dup MANE Select	ENSP00000392617.2:n.*351_*391dup
ENST00000323347.14:c.*351_*391dup	ENSP00000318451.10:n.*351_*391dup
ENST00000448276.6:c.*351_*391dup	ENSP00000392617.2:n.*351_*391dup
ENST00000613943.4:c.1836_1876dup	ENSP00000483605.1:n.1836_1876dup
NM_001098426.1:c.*351_*391dup	NP_001091896.1:n.*351_*391dup
XM_005257604.2:c.*351_*391dup	XP_005257661.2:n.*351_*391dup
NM_001330439.1:c.*351_*391dup	NP_001317368.1:n.*351_*391dup
NM_001330440.1:c.*351_*391dup	NP_001317369.1:n.*351_*391dup
NM_001098426.2:c.*351_*391dup MANE Select	NP_001091896.1:n.*351_*391dup
NM_001330440.2:c.*351_*391dup	NP_001317369.1:n.*351_*391dup