Canonical Allele Identifier: CA212301759
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs755531976
MyVariant Identifiers: chr10:g.104719022T>G (hg19) chr10:g.102959265T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102959265T>G , CM000672.2:g.102959265T>G GRCh38
NC_000010.10:g.104719022T>G , CM000672.1:g.104719022T>G GRCh37
NC_000010.9:g.104709012T>G NCBI36
NG_031932.1:g.45948T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369878.9:c.1621+39164T>G MANE Select ENSP00000358894.3:n.1621+39164T>G
ENST00000369878.8:c.1621+39164T>G ENSP00000358894.3:n.1621+39164T>G
ENST00000433628.2:c.1621+39164T>G ENSP00000392875.2:n.1621+39164T>G
NM_017649.4:c.1621+39164T>G NP_060119.3:n.1621+39164T>G
NM_199076.2:c.1621+39164T>G NP_951058.1:n.1621+39164T>G
XR_945780.1:n.1809+39164T>G
XR_945781.1:n.1809+39164T>G
XR_945782.1:n.1809+39164T>G
XR_001747118.1:n.1809+39164T>G
XR_001747119.2:n.1809+39164T>G
XR_001747121.1:n.1809+39164T>G
XR_945782.3:n.1809+39164T>G
NM_017649.5:c.1621+39164T>G MANE Select NP_060119.3:n.1621+39164T>G
NM_199076.3:c.1621+39164T>G NP_951058.1:n.1621+39164T>G
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