Canonical Allele Identifier: CA212317716
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs3841710
gnomAD v2: 10-104846219-G-GTTGT
gnomAD v3: 10-103086462-G-GTTGT
gnomAD v4: 10-103086462-G-GTTGT
COSMIC: COSN20107508 COSN20107509
MyVariant Identifiers: chr10:g.104846219_104846220insTTGT (hg19) chr10:g.103086462_103086463insTTGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086463_103086466dup , CM000672.2:g.103086463_103086466dup GRCh38
NC_000010.10:g.104846220_104846223dup , CM000672.1:g.104846220_104846223dup GRCh37
NC_000010.9:g.104836210_104836213dup NCBI36
NG_042272.1:g.111841_111844dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*9283_*9286dup MANE Select ENSP00000358894.3:n.*9283_*9286dup
ENST00000369878.8:c.*9283_*9286dup ENSP00000358894.3:n.*9283_*9286dup
XR_001747118.1:n.12164_12167dup
XR_001747121.1:n.12128_12131dup
NM_017649.5:c.*9283_*9286dup MANE Select NP_060119.3:n.*9283_*9286dup
NM_199076.3:c.*9283_*9286dup NP_951058.1:n.*9283_*9286dup
Search 100 bp 5'
Search 100 bp 3'