Canonical Allele Identifier: CA595234930
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs1419313665
gnomAD v2: 10-104846189-T-TTCC
gnomAD v3: 10-103086432-T-TTCC
gnomAD v4: 10-103086432-T-TTCC
MyVariant Identifiers: chr10:g.104846189_104846190insTCC (hg19) chr10:g.103086432_103086433insTCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086434_103086436dup , CM000672.2:g.103086434_103086436dup GRCh38
NC_000010.10:g.104846191_104846193dup , CM000672.1:g.104846191_104846193dup GRCh37
NC_000010.9:g.104836181_104836183dup NCBI36
NG_042272.1:g.111872_111874dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*9254_*9256dup MANE Select ENSP00000358894.3:n.*9254_*9256dup
ENST00000369878.8:c.*9254_*9256dup ENSP00000358894.3:n.*9254_*9256dup
XR_001747118.1:n.12135_12137dup
XR_001747121.1:n.12099_12101dup
NM_017649.5:c.*9254_*9256dup MANE Select NP_060119.3:n.*9254_*9256dup
NM_199076.3:c.*9254_*9256dup NP_951058.1:n.*9254_*9256dup
Search 100 bp 5'
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