Canonical Allele Identifier: CA212317599

Gene: CNNM2

Linked Data

• dbSNP Id: rs911441877
• gnomAD v2: 10-104846094-C-G
• gnomAD v3: 10-103086337-C-G
• gnomAD v4: 10-103086337-C-G
• MyVariant Identifiers: chr10:g.104846094C>G (hg19) ; chr10:g.103086337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103086337C>G , CM000672.2:g.103086337C>G	GRCh38
NC_000010.10:g.104846094C>G , CM000672.1:g.104846094C>G	GRCh37
NC_000010.9:g.104836084C>G	NCBI36
NG_042272.1:g.111970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.*9157C>G MANE Select	ENSP00000358894.3:n.*9157C>G
ENST00000369878.8:c.*9157C>G	ENSP00000358894.3:n.*9157C>G
XR_001747118.1:n.12038C>G
XR_001747121.1:n.12002C>G
NM_017649.5:c.*9157C>G MANE Select	NP_060119.3:n.*9157C>G
NM_199076.3:c.*9157C>G	NP_951058.1:n.*9157C>G