Canonical Allele Identifier: CA212317730
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs951745286
gnomAD v3: 10-103086479-G-A
gnomAD v4: 10-103086479-G-A
MyVariant Identifiers: chr10:g.104846236G>A (hg19) chr10:g.103086479G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086479G>A , CM000672.2:g.103086479G>A GRCh38
NC_000010.10:g.104846236G>A , CM000672.1:g.104846236G>A GRCh37
NC_000010.9:g.104836226G>A NCBI36
NG_042272.1:g.111828C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*9299G>A MANE Select ENSP00000358894.3:n.*9299G>A
ENST00000369878.8:c.*9299G>A ENSP00000358894.3:n.*9299G>A
XR_001747118.1:n.12180G>A
XR_001747121.1:n.12144G>A
NM_017649.5:c.*9299G>A MANE Select NP_060119.3:n.*9299G>A
NM_199076.3:c.*9299G>A NP_951058.1:n.*9299G>A
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