Canonical Allele Identifier: CA2639298068

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832170-A-AGAACGGCGAGTCCATGTCACTCAGGAGGACTTTGAGATGGCAGTAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832170_63832171insGAACGGCGAGTCCATGTCACTCAGGAGGACTTTGAGATGGCAGTAGCC , CM000679.2:g.63832170_63832171insGAACGGCGAGTCCATGTCACTCAGGAGGACTTTGAGATGGCAGTAGCC	GRCh38
NC_000017.10:g.61909530_61909531insGAACGGCGAGTCCATGTCACTCAGGAGGACTTTGAGATGGCAGTAGCC , CM000679.1:g.61909530_61909531insGAACGGCGAGTCCATGTCACTCAGGAGGACTTTGAGATGGCAGTAGCC	GRCh37
NC_000017.9:g.59263262_59263263insGAACGGCGAGTCCATGTCACTCAGGAGGACTTTGAGATGGCAGTAGCC	NCBI36
NG_053004.1:g.15821_15822insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2642_2643insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000697953.1:n.3215_3216insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698013.1:n.3327_3328insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698014.1:n.3550_3551insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698015.1:n.2643_2644insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698016.1:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	ENSP00000513502.1:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAG...
ENST00000698017.1:n.2717_2718insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698018.1:n.2848_2849insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698019.1:n.3046_3047insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698020.1:n.2152_2153insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698021.1:c.2061_2062insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698022.1:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	ENSP00000513504.1:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAG...
ENST00000698023.1:n.2746_2747insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698024.1:n.2608_2609insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698025.1:n.2768_2769insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698026.1:n.1659_1660insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC
ENST00000698027.1:c.*984_*985insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	ENSP00000513505.1:n.*984_*985insGGCTACTGCCATCTCAAAGTCCTCCTGAG...
ENST00000448276.7:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC MANE Select	ENSP00000392617.2:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAG...
ENST00000448276.6:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	ENSP00000392617.2:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAG...
ENST00000613943.4:c.2252_2253insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	ENSP00000483605.1:n.2252_2253insGGCTACTGCCATCTCAAAGTCCTCCTGAG...
NM_001098426.1:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	NP_001091896.1:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGA...
XM_005257604.2:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	XP_005257661.2:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGA...
NM_001330439.1:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	NP_001317368.1:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGA...
NM_001330440.1:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	NP_001317369.1:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGA...
NM_001098426.2:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC MANE Select	NP_001091896.1:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGA...
NM_001330440.2:c.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGACATGGACTCGCCGTTC	NP_001317369.1:n.*767_*768insGGCTACTGCCATCTCAAAGTCCTCCTGAGTGA...