Canonical Allele Identifier: CA2610736809
Gene: CNNM2 HGNC NCBI

Linked Data

gnomAD v4: 10-103086373-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086378del , CM000672.2:g.103086378del GRCh38
NC_000010.10:g.104846135del , CM000672.1:g.104846135del GRCh37
NC_000010.9:g.104836125del NCBI36
NG_042272.1:g.111933del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*9198del MANE Select ENSP00000358894.3:n.*9198del
ENST00000369878.8:c.*9198del ENSP00000358894.3:n.*9198del
XR_001747118.1:n.12079del
XR_001747121.1:n.12043del
NM_017649.5:c.*9198del MANE Select NP_060119.3:n.*9198del
NM_199076.3:c.*9198del NP_951058.1:n.*9198del
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