Canonical Allele Identifier: CA5670430
Gene: CNNM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 298643
ClinVar RCV Id: RCV000302263 RCV000969592 RCV003920220
dbSNP Id: rs74464353
ExAC: 10:104809458 C / T
gnomAD v2: 10-104809458-C-T
gnomAD v3: 10-103049701-C-T
gnomAD v4: 10-103049701-C-T
MyVariant Identifiers: chr10:g.104809458C>T (hg19) chr10:g.103049701C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103049701C>T , CM000672.2:g.103049701C>T GRCh38
NC_000010.10:g.104809458C>T , CM000672.1:g.104809458C>T GRCh37
NC_000010.9:g.104799448C>T NCBI36
NG_031932.1:g.136384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.1622-6C>T MANE Select ENSP00000358894.3:n.1622-6C>T
ENST00000369878.8:c.1622-6C>T ENSP00000358894.3:n.1622-6C>T
ENST00000433628.2:c.1622-6C>T ENSP00000392875.2:n.1622-6C>T
NM_017649.4:c.1622-6C>T NP_060119.3:n.1622-6C>T
NM_199076.2:c.1622-6C>T NP_951058.1:n.1622-6C>T
XR_945780.1:n.1810-6C>T
XR_945781.1:n.1905-6C>T
XR_001747118.1:n.1810-6C>T
XR_001747119.2:n.1810-6C>T
XR_001747121.1:n.1905-6C>T
NM_017649.5:c.1622-6C>T MANE Select NP_060119.3:n.1622-6C>T
NM_199076.3:c.1622-6C>T NP_951058.1:n.1622-6C>T
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