Canonical Allele Identifier: CA2610736854
Gene: CNNM2 HGNC NCBI

Linked Data

gnomAD v4: 10-103086427-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086427T>C , CM000672.2:g.103086427T>C GRCh38
NC_000010.10:g.104846184T>C , CM000672.1:g.104846184T>C GRCh37
NC_000010.9:g.104836174T>C NCBI36
NG_042272.1:g.111880A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369878.9:c.*9247T>C MANE Select ENSP00000358894.3:n.*9247T>C
ENST00000369878.8:c.*9247T>C ENSP00000358894.3:n.*9247T>C
XR_001747118.1:n.12128T>C
XR_001747121.1:n.12092T>C
NM_017649.5:c.*9247T>C MANE Select NP_060119.3:n.*9247T>C
NM_199076.3:c.*9247T>C NP_951058.1:n.*9247T>C
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