Canonical Allele Identifier: CA932011420
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs2065813965
gnomAD v3: 10-103086502-T-C
gnomAD v4: 10-103086502-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086502T>C , CM000672.2:g.103086502T>C GRCh38
NC_000010.10:g.104846259T>C , CM000672.1:g.104846259T>C GRCh37
NC_000010.9:g.104836249T>C NCBI36
NG_042272.1:g.111805A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*9322T>C MANE Select ENSP00000358894.3:n.*9322T>C
ENST00000369878.8:c.*9322T>C ENSP00000358894.3:n.*9322T>C
XR_001747118.1:n.12203T>C
XR_001747121.1:n.12167T>C
NM_017649.5:c.*9322T>C MANE Select NP_060119.3:n.*9322T>C
NM_199076.3:c.*9322T>C NP_951058.1:n.*9322T>C
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