Canonical Allele Identifier: CA659071266
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs1487658930
gnomAD v3: 10-103086367-G-GTTACCAT
gnomAD v4: 10-103086367-G-GTTACCAT
MyVariant Identifiers: chr10:g.104846124_104846125insTTACCAT (hg19) chr10:g.103086367_103086368insTTACCAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086370_103086376dup , CM000672.2:g.103086370_103086376dup GRCh38
NC_000010.10:g.104846127_104846133dup , CM000672.1:g.104846127_104846133dup GRCh37
NC_000010.9:g.104836117_104836123dup NCBI36
NG_042272.1:g.111933_111939dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*9190_*9196dup MANE Select ENSP00000358894.3:n.*9190_*9196dup
ENST00000369878.8:c.*9190_*9196dup ENSP00000358894.3:n.*9190_*9196dup
XR_001747118.1:n.12071_12077dup
XR_001747121.1:n.12035_12041dup
NM_017649.5:c.*9190_*9196dup MANE Select NP_060119.3:n.*9190_*9196dup
NM_199076.3:c.*9190_*9196dup NP_951058.1:n.*9190_*9196dup
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