Canonical Allele Identifier: CA10627963

Gene: CNNM2

Linked Data

• ClinVar Variation Id: 298634
• ClinVar RCV Id: RCV000293358
• dbSNP Id: rs886046669
• gnomAD v4: 10-102918529-C-G
• MyVariant Identifiers: chr10:g.104678286C>G (hg19) ; chr10:g.102918529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102918529C>G , CM000672.2:g.102918529C>G	GRCh38
NC_000010.10:g.104678286C>G , CM000672.1:g.104678286C>G	GRCh37
NC_000010.9:g.104668276C>G	NCBI36
NG_031932.1:g.5212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.49C>G MANE Select	ENSP00000358894.3:p.Gln17Glu
ENST00000369875.3:c.49C>G	ENSP00000358891.3:p.Gln17Glu
ENST00000369878.8:c.49C>G	ENSP00000358894.3:p.Gln17Glu
ENST00000433628.2:c.49C>G	ENSP00000392875.2:p.Gln17Glu
NM_017649.4:c.49C>G	NP_060119.3:p.Gln17Glu
NM_199076.2:c.49C>G	NP_951058.1:p.Gln17Glu
NM_199077.2:c.49C>G	NP_951059.1:p.Gln17Glu
XM_005269933.3:c.49C>G	XP_005269990.1:p.Gln17Glu
XM_006717908.2:c.49C>G	XP_006717971.1:p.Gln17Glu
XM_011539911.1:c.49C>G	XP_011538213.1:p.Gln17Glu
XR_945780.1:n.237C>G
XR_945781.1:n.237C>G
XR_945782.1:n.237C>G
XM_005269933.4:c.49C>G	XP_005269990.1:p.Gln17Glu
XM_011539911.3:c.49C>G	XP_011538213.1:p.Gln17Glu
XR_001747118.1:n.237C>G
XR_001747119.2:n.237C>G
XR_001747120.1:n.237C>G
XR_001747121.1:n.237C>G
XR_945782.3:n.237C>G
NM_017649.5:c.49C>G MANE Select	NP_060119.3:p.Gln17Glu
NM_199076.3:c.49C>G	NP_951058.1:p.Gln17Glu
NM_199077.3:c.49C>G	NP_951059.1:p.Gln17Glu