Canonical Allele Identifier: CA10634482
Gene: CNNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 298655
ClinVar RCV Id: RCV000328503
dbSNP Id: rs376027544
gnomAD v2: 10-104837248-G-A
gnomAD v3: 10-103077491-G-A
gnomAD v4: 10-103077491-G-A
MyVariant Identifiers: chr10:g.104837248G>A (hg19) chr10:g.103077491G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103077491G>A , CM000672.2:g.103077491G>A GRCh38
NC_000010.10:g.104837248G>A , CM000672.1:g.104837248G>A GRCh37
NC_000010.9:g.104827238G>A NCBI36
NG_031932.1:g.164174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.*311G>A MANE Select ENSP00000358894.3:n.*311G>A
ENST00000369878.8:c.*311G>A ENSP00000358894.3:n.*311G>A
ENST00000433628.2:c.*311G>A ENSP00000392875.2:n.*311G>A
NM_017649.4:c.*311G>A NP_060119.3:n.*311G>A
NM_199076.2:c.*311G>A NP_951058.1:n.*311G>A
XR_001747118.1:n.3192G>A
XR_001747119.2:n.3126G>A
XR_001747121.1:n.3156G>A
NM_017649.5:c.*311G>A MANE Select NP_060119.3:n.*311G>A
NM_199076.3:c.*311G>A NP_951058.1:n.*311G>A
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