Canonical Allele Identifier: CA626857108

Gene: SMARCD2

Linked Data

• dbSNP Id: rs1409411503
• gnomAD v2: 17-61909720-AAAG-A
• gnomAD v3: 17-63832360-AAAG-A
• gnomAD v4: 17-63832360-AAAG-A
• MyVariant Identifiers: chr17:g.61909721_61909723del (hg19) ; chr17:g.63832361_63832363del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832364_63832366del , CM000679.2:g.63832364_63832366del	GRCh38
NC_000017.10:g.61909724_61909726del , CM000679.1:g.61909724_61909726del	GRCh37
NC_000017.9:g.59263456_59263458del	NCBI36
NG_053004.1:g.15629_15631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2450_2452del
ENST00000697953.1:n.3023_3025del
ENST00000698013.1:n.3135_3137del
ENST00000698014.1:n.3358_3360del
ENST00000698015.1:n.2451_2453del
ENST00000698016.1:c.*575_*577del	ENSP00000513502.1:n.*575_*577del
ENST00000698017.1:n.2525_2527del
ENST00000698018.1:n.2656_2658del
ENST00000698019.1:n.2854_2856del
ENST00000698020.1:n.1960_1962del
ENST00000698021.1:c.1869_1871del
ENST00000698022.1:c.*575_*577del	ENSP00000513504.1:n.*575_*577del
ENST00000698023.1:n.2554_2556del
ENST00000698024.1:n.2416_2418del
ENST00000698025.1:n.2576_2578del
ENST00000698026.1:n.1467_1469del
ENST00000698027.1:c.*792_*794del	ENSP00000513505.1:n.*792_*794del
ENST00000698028.1:n.2659_2661del
ENST00000698029.1:n.3388_3390del
ENST00000448276.7:c.*575_*577del MANE Select	ENSP00000392617.2:n.*575_*577del
ENST00000448276.6:c.*575_*577del	ENSP00000392617.2:n.*575_*577del
ENST00000613943.4:c.2060_2062del	ENSP00000483605.1:n.2060_2062del
NM_001098426.1:c.*575_*577del	NP_001091896.1:n.*575_*577del
XM_005257604.2:c.*575_*577del	XP_005257661.2:n.*575_*577del
NM_001330439.1:c.*575_*577del	NP_001317368.1:n.*575_*577del
NM_001330440.1:c.*575_*577del	NP_001317369.1:n.*575_*577del
NM_001098426.2:c.*575_*577del MANE Select	NP_001091896.1:n.*575_*577del
NM_001330440.2:c.*575_*577del	NP_001317369.1:n.*575_*577del