Canonical Allele Identifier: CA8706523

Gene: SMARCD2

Linked Data

• dbSNP Id: rs749019990
• ExAC: 17:61914864 TC / T
• MyVariant Identifiers: chr17:g.61914865del (hg19) ; chr17:g.63837505del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837506del , CM000679.2:g.63837506del	GRCh38
NC_000017.10:g.61914866del , CM000679.1:g.61914866del	GRCh37
NC_000017.9:g.59268598del	NCBI36
NG_053004.1:g.10487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.225del
ENST00000698016.1:c.196del	ENSP00000513502.1:p.Asp66IlefsTer23
ENST00000698022.1:c.154del	ENSP00000513504.1:p.Asp52IlefsTer23
ENST00000698027.1:c.196del	ENSP00000513505.1:p.Asp66IlefsTer23
ENST00000448276.7:c.337del MANE Select	ENSP00000392617.2:p.Asp113IlefsTer23
ENST00000225742.13:c.112del	ENSP00000225742.9:p.Asp38IlefsTer23
ENST00000323347.14:c.193del	ENSP00000318451.10:p.Asp65IlefsTer23
ENST00000448276.6:c.337del	ENSP00000392617.2:p.Asp113IlefsTer23
ENST00000577686.1:n.53-268del
ENST00000580054.1:c.121del	ENSP00000463793.1:p.Asp41IlefsTer23
ENST00000584400.5:c.217-268del	ENSP00000464503.1:n.217-268del
ENST00000613943.4:c.226del	ENSP00000483605.1:p.Asp76IlefsTer23
NM_001098426.1:c.337del	NP_001091896.1:p.Asp113IlefsTer23
XM_005257604.2:c.112del	XP_005257661.2:p.Asp38IlefsTer23
NM_001330439.1:c.112del	NP_001317368.1:p.Asp38IlefsTer23
NM_001330440.1:c.193del	NP_001317369.1:p.Asp65IlefsTer23
NM_001098426.2:c.337del MANE Select	NP_001091896.1:p.Asp113IlefsTer23
NM_001330440.2:c.193del	NP_001317369.1:p.Asp65IlefsTer23