Canonical Allele Identifier: CA626857160

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1371522270
• gnomAD v2: 17-61909915-ACCT-A
• gnomAD v3: 17-63832555-ACCT-A
• gnomAD v4: 17-63832555-ACCT-A
• MyVariant Identifiers: chr17:g.61909916_61909918del (hg19) ; chr17:g.63832556_63832558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832560_63832562del , CM000679.2:g.63832560_63832562del	GRCh38
NC_000017.10:g.61909920_61909922del , CM000679.1:g.61909920_61909922del	GRCh37
NC_000017.9:g.59263652_59263654del	NCBI36
NG_053004.1:g.15434_15436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2255_2257del
ENST00000697953.1:n.2828_2830del
ENST00000698013.1:n.2940_2942del
ENST00000698014.1:n.3163_3165del
ENST00000698015.1:n.2256_2258del
ENST00000698016.1:c.*380_*382del	ENSP00000513502.1:n.*380_*382del
ENST00000698017.1:n.2330_2332del
ENST00000698018.1:n.2461_2463del
ENST00000698019.1:n.2659_2661del
ENST00000698020.1:n.1765_1767del
ENST00000698021.1:c.1674_1676del
ENST00000698022.1:c.*380_*382del	ENSP00000513504.1:n.*380_*382del
ENST00000698023.1:n.2359_2361del
ENST00000698024.1:n.2221_2223del
ENST00000698025.1:n.2381_2383del
ENST00000698026.1:n.1272_1274del
ENST00000698027.1:c.*597_*599del	ENSP00000513505.1:n.*597_*599del
ENST00000698028.1:n.2464_2466del
ENST00000698029.1:n.3193_3195del
ENST00000448276.7:c.*380_*382del MANE Select	ENSP00000392617.2:n.*380_*382del
ENST00000323347.14:c.*380_*382del	ENSP00000318451.10:n.*380_*382del
ENST00000448276.6:c.*380_*382del	ENSP00000392617.2:n.*380_*382del
ENST00000613943.4:c.1865_1867del	ENSP00000483605.1:n.1865_1867del
NM_001098426.1:c.*380_*382del	NP_001091896.1:n.*380_*382del
XM_005257604.2:c.*380_*382del	XP_005257661.2:n.*380_*382del
NM_001330439.1:c.*380_*382del	NP_001317368.1:n.*380_*382del
NM_001330440.1:c.*380_*382del	NP_001317369.1:n.*380_*382del
NM_001098426.2:c.*380_*382del MANE Select	NP_001091896.1:n.*380_*382del
NM_001330440.2:c.*380_*382del	NP_001317369.1:n.*380_*382del