Canonical Allele Identifier: CA5670282

Gene: CNNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102918958T>A , CM000672.2:g.102918958T>A	GRCh38
NC_000010.10:g.104678715T>A , CM000672.1:g.104678715T>A	GRCh37
NC_000010.9:g.104668705T>A	NCBI36
NG_031932.1:g.5641T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.478T>A MANE Select	ENSP00000358894.3:p.Leu160Met
ENST00000369875.3:c.478T>A	ENSP00000358891.3:p.Leu160Met
ENST00000369878.8:c.478T>A	ENSP00000358894.3:p.Leu160Met
ENST00000433628.2:c.478T>A	ENSP00000392875.2:p.Leu160Met
NM_017649.4:c.478T>A	NP_060119.3:p.Leu160Met
NM_199076.2:c.478T>A	NP_951058.1:p.Leu160Met
NM_199077.2:c.478T>A	NP_951059.1:p.Leu160Met
XM_005269933.3:c.478T>A	XP_005269990.1:p.Leu160Met
XM_006717908.2:c.478T>A	XP_006717971.1:p.Leu160Met
XM_011539911.1:c.478T>A	XP_011538213.1:p.Leu160Met
XR_945780.1:n.666T>A
XR_945781.1:n.666T>A
XR_945782.1:n.666T>A
XM_005269933.4:c.478T>A	XP_005269990.1:p.Leu160Met
XM_011539911.3:c.478T>A	XP_011538213.1:p.Leu160Met
XR_001747118.1:n.666T>A
XR_001747119.2:n.666T>A
XR_001747120.1:n.666T>A
XR_001747121.1:n.666T>A
XR_945782.3:n.666T>A
NM_017649.5:c.478T>A MANE Select	NP_060119.3:p.Leu160Met
NM_199076.3:c.478T>A	NP_951058.1:p.Leu160Met
NM_199077.3:c.478T>A	NP_951059.1:p.Leu160Met