Canonical Allele Identifier: CA5670517

Gene: CNNM2

Linked Data

• ClinVar Variation Id: 298647
• ClinVar RCV Id: RCV000353988 ; RCV002059518 ; RCV002502186
• dbSNP Id: rs184406418
• ExAC: 10:104816735 T / C
• gnomAD v2: 10-104816735-T-C
• gnomAD v3: 10-103056978-T-C
• gnomAD v4: 10-103056978-T-C
• MyVariant Identifiers: chr10:g.104816735T>C (hg19) ; chr10:g.103056978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103056978T>C , CM000672.2:g.103056978T>C	GRCh38
NC_000010.10:g.104816735T>C , CM000672.1:g.104816735T>C	GRCh37
NC_000010.9:g.104806725T>C	NCBI36
NG_031932.1:g.143661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.2073+14T>C MANE Select	ENSP00000358894.3:n.2073+14T>C
ENST00000369878.8:c.2073+14T>C	ENSP00000358894.3:n.2073+14T>C
ENST00000433628.2:c.2073+14T>C	ENSP00000392875.2:n.2073+14T>C
NM_017649.4:c.2073+14T>C	NP_060119.3:n.2073+14T>C
NM_199076.2:c.2073+14T>C	NP_951058.1:n.2073+14T>C
XR_001747118.1:n.2326+14T>C
XR_001747119.2:n.2326+14T>C
XR_001747121.1:n.2356+14T>C
NM_017649.5:c.2073+14T>C MANE Select	NP_060119.3:n.2073+14T>C
NM_199076.3:c.2073+14T>C	NP_951058.1:n.2073+14T>C