Canonical Allele Identifier: CA626857111

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1267990330
• gnomAD v2: 17-61909763-AC-A
• gnomAD v3: 17-63832403-AC-A
• gnomAD v4: 17-63832403-AC-A
• MyVariant Identifiers: chr17:g.61909764del (hg19) ; chr17:g.63832404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832407del , CM000679.2:g.63832407del	GRCh38
NC_000017.10:g.61909767del , CM000679.1:g.61909767del	GRCh37
NC_000017.9:g.59263499del	NCBI36
NG_053004.1:g.15588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2409del
ENST00000697953.1:n.2982del
ENST00000698013.1:n.3094del
ENST00000698014.1:n.3317del
ENST00000698015.1:n.2410del
ENST00000698016.1:c.*534del	ENSP00000513502.1:n.*534del
ENST00000698017.1:n.2484del
ENST00000698018.1:n.2615del
ENST00000698019.1:n.2813del
ENST00000698020.1:n.1919del
ENST00000698021.1:c.1828del
ENST00000698022.1:c.*534del	ENSP00000513504.1:n.*534del
ENST00000698023.1:n.2513del
ENST00000698024.1:n.2375del
ENST00000698025.1:n.2535del
ENST00000698026.1:n.1426del
ENST00000698027.1:c.*751del	ENSP00000513505.1:n.*751del
ENST00000698028.1:n.2618del
ENST00000698029.1:n.3347del
ENST00000448276.7:c.*534del MANE Select	ENSP00000392617.2:n.*534del
ENST00000448276.6:c.*534del	ENSP00000392617.2:n.*534del
ENST00000613943.4:c.2019del	ENSP00000483605.1:n.2019del
NM_001098426.1:c.*534del	NP_001091896.1:n.*534del
XM_005257604.2:c.*534del	XP_005257661.2:n.*534del
NM_001330439.1:c.*534del	NP_001317368.1:n.*534del
NM_001330440.1:c.*534del	NP_001317369.1:n.*534del
NM_001098426.2:c.*534del MANE Select	NP_001091896.1:n.*534del
NM_001330440.2:c.*534del	NP_001317369.1:n.*534del