Canonical Allele Identifier: CA658796349
Gene: IMPG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 522456
ClinVar RCV Id: RCV000625597
dbSNP Id: rs1553681433
MyVariant Identifiers: chr3:g.100963349del (hg19) chr3:g.101244505del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101244505del , CM000665.2:g.101244505del GRCh38
NC_000003.11:g.100963349del , CM000665.1:g.100963349del GRCh37
NC_000003.10:g.102446039del NCBI36
NG_028284.1:g.81071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000193391.8:c.1826del MANE Select ENSP00000193391.6:p.Val609GlufsTer3
ENST00000193391.7:c.1826del ENSP00000193391.6:p.Val609GlufsTer3
NM_016247.3:c.1826del NP_057331.2:p.Val609GlufsTer3
XM_011512871.1:c.1532del XP_011511173.1:p.Val511GlufsTer3
XM_011512872.1:c.1415del XP_011511174.1:p.Val472GlufsTer3
NM_016247.4:c.1826del MANE Select NP_057331.2:p.Val609GlufsTer3
Search 100 bp 5'
Search 100 bp 3'