Canonical Allele Identifier: CA292951764

Gene: SMARCD2

Linked Data

• dbSNP Id: rs914410317
• gnomAD v2: 17-61909762-T-TA
• gnomAD v3: 17-63832402-T-TA
• gnomAD v4: 17-63832402-T-TA
• MyVariant Identifiers: chr17:g.61909762_61909763insA (hg19) ; chr17:g.63832402_63832403insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832403dup , CM000679.2:g.63832403dup	GRCh38
NC_000017.10:g.61909763dup , CM000679.1:g.61909763dup	GRCh37
NC_000017.9:g.59263495dup	NCBI36
NG_053004.1:g.15589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2410dup
ENST00000697953.1:n.2983dup
ENST00000698013.1:n.3095dup
ENST00000698014.1:n.3318dup
ENST00000698015.1:n.2411dup
ENST00000698016.1:c.*535dup	ENSP00000513502.1:n.*535dup
ENST00000698017.1:n.2485dup
ENST00000698018.1:n.2616dup
ENST00000698019.1:n.2814dup
ENST00000698020.1:n.1920dup
ENST00000698021.1:c.1829dup
ENST00000698022.1:c.*535dup	ENSP00000513504.1:n.*535dup
ENST00000698023.1:n.2514dup
ENST00000698024.1:n.2376dup
ENST00000698025.1:n.2536dup
ENST00000698026.1:n.1427dup
ENST00000698027.1:c.*752dup	ENSP00000513505.1:n.*752dup
ENST00000698028.1:n.2619dup
ENST00000698029.1:n.3348dup
ENST00000448276.7:c.*535dup MANE Select	ENSP00000392617.2:n.*535dup
ENST00000448276.6:c.*535dup	ENSP00000392617.2:n.*535dup
ENST00000613943.4:c.2020dup	ENSP00000483605.1:n.2020dup
NM_001098426.1:c.*535dup	NP_001091896.1:n.*535dup
XM_005257604.2:c.*535dup	XP_005257661.2:n.*535dup
NM_001330439.1:c.*535dup	NP_001317368.1:n.*535dup
NM_001330440.1:c.*535dup	NP_001317369.1:n.*535dup
NM_001098426.2:c.*535dup MANE Select	NP_001091896.1:n.*535dup
NM_001330440.2:c.*535dup	NP_001317369.1:n.*535dup