Canonical Allele Identifier: CA1932995561
Gene: CNNM2 HGNC NCBI

Linked Data

dbSNP Id: rs968344242
gnomAD v4: 10-103086360-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.103086360G>T , CM000672.2:g.103086360G>T GRCh38
NC_000010.10:g.104846117G>T , CM000672.1:g.104846117G>T GRCh37
NC_000010.9:g.104836107G>T NCBI36
NG_042272.1:g.111947C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369878.9:c.*9180G>T MANE Select ENSP00000358894.3:n.*9180G>T
ENST00000369878.8:c.*9180G>T ENSP00000358894.3:n.*9180G>T
XR_001747118.1:n.12061G>T
XR_001747121.1:n.12025G>T
NM_017649.5:c.*9180G>T MANE Select NP_060119.3:n.*9180G>T
NM_199076.3:c.*9180G>T NP_951058.1:n.*9180G>T
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