Canonical Allele Identifier: CA7730438

Gene: MESP2

Linked Data

• ClinVar Variation Id: 281201
• ClinVar RCV Id: RCV000269041 ; RCV001833306 ; RCV001683153
• dbSNP Id: rs200021459
• ExAC: 15:90320120 GAGGGGCAGGGGCAAGGGCAGGGGC / G
• gnomAD v2: 15-90320120-GAGGGGCAGGGGCAAGGGCAGGGGC-G
• gnomAD v3: 15-89776889-GAGGGGCAGGGGCAAGGGCAGGGGC-G
• gnomAD v4: 15-89776889-GAGGGGCAGGGGCAAGGGCAGGGGC-G
• COSMIC: COSM128727
• MyVariant Identifiers: chr15:g.90320146_90320169del (hg19) ; chr15:g.90320139_90320162del (hg19) ; chr15:g.90320121_90320144del (hg19) ; chr15:g.89776915_89776938del (hg38) ; chr15:g.89776891_89776914del (hg38) ; chr15:g.89776890_89776913del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89776915_89776938del , CM000677.2:g.89776915_89776938del	GRCh38
NC_000015.9:g.90320146_90320169del , CM000677.1:g.90320146_90320169del	GRCh37
NC_000015.8:g.88121150_88121173del	NCBI36
NG_008608.1:g.5558_5581del
NG_008608.2:g.21325_21348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341735.5:c.558_581del MANE Select	ENSP00000342392.3:p.Gly187_Gln194del
ENST00000341735.3:c.558_581del	ENSP00000342392.3:p.Gly187_Gln194del
ENST00000558723.1:n.39-1150_39-1127del
ENST00000560219.2:c.31-1150_31-1127del	ENSP00000452998.1:n.31-1150_31-1127del
NM_001039958.1:c.558_581del	NP_001035047.1:p.Gly187_Gln194del
NM_001039958.2:c.558_581del MANE Select	NP_001035047.1:p.Gly187_Gln194del