Canonical Allele Identifier: CA659071287
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs1245173086
MyVariant Identifiers: chr10:g.104846147_104846150del (hg19) chr10:g.103086390_103086393del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086393_103086396del , CM000672.2:g.103086393_103086396del GRCh38
NC_000010.10:g.104846150_104846153del , CM000672.1:g.104846150_104846153del GRCh37
NC_000010.9:g.104836140_104836143del NCBI36
NG_042272.1:g.111914_111917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*9213_*9216del MANE Select ENSP00000358894.3:n.*9213_*9216del
ENST00000369878.8:c.*9213_*9216del ENSP00000358894.3:n.*9213_*9216del
XR_001747118.1:n.12094_12097del
XR_001747121.1:n.12058_12061del
NM_017649.5:c.*9213_*9216del MANE Select NP_060119.3:n.*9213_*9216del
NM_199076.3:c.*9213_*9216del NP_951058.1:n.*9213_*9216del
Search 100 bp 5'
Search 100 bp 3'