Canonical Allele Identifier: CA10634461

Gene: CNNM2

Linked Data

• ClinVar Variation Id: 298636
• ClinVar RCV Id: RCV000389082
• dbSNP Id: rs886046670
• gnomAD v2: 10-104678447-G-A
• gnomAD v4: 10-102918690-G-A
• MyVariant Identifiers: chr10:g.104678447G>A (hg19) ; chr10:g.102918690G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102918690G>A , CM000672.2:g.102918690G>A	GRCh38
NC_000010.10:g.104678447G>A , CM000672.1:g.104678447G>A	GRCh37
NC_000010.9:g.104668437G>A	NCBI36
NG_031932.1:g.5373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.210G>A MANE Select	ENSP00000358894.3:p.Glu70=
ENST00000369875.3:c.210G>A	ENSP00000358891.3:p.Glu70=
ENST00000369878.8:c.210G>A	ENSP00000358894.3:p.Glu70=
ENST00000433628.2:c.210G>A	ENSP00000392875.2:p.Glu70=
NM_017649.4:c.210G>A	NP_060119.3:p.Glu70=
NM_199076.2:c.210G>A	NP_951058.1:p.Glu70=
NM_199077.2:c.210G>A	NP_951059.1:p.Glu70=
XM_005269933.3:c.210G>A	XP_005269990.1:p.Glu70=
XM_006717908.2:c.210G>A	XP_006717971.1:p.Glu70=
XM_011539911.1:c.210G>A	XP_011538213.1:p.Glu70=
XR_945780.1:n.398G>A
XR_945781.1:n.398G>A
XR_945782.1:n.398G>A
XM_005269933.4:c.210G>A	XP_005269990.1:p.Glu70=
XM_011539911.3:c.210G>A	XP_011538213.1:p.Glu70=
XR_001747118.1:n.398G>A
XR_001747119.2:n.398G>A
XR_001747120.1:n.398G>A
XR_001747121.1:n.398G>A
XR_945782.3:n.398G>A
NM_017649.5:c.210G>A MANE Select	NP_060119.3:p.Glu70=
NM_199076.3:c.210G>A	NP_951058.1:p.Glu70=
NM_199077.3:c.210G>A	NP_951059.1:p.Glu70=