Canonical Allele Identifier: CA377957216

Gene: CNNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102919160C>G , CM000672.2:g.102919160C>G	GRCh38
NC_000010.10:g.104678917C>G , CM000672.1:g.104678917C>G	GRCh37
NC_000010.9:g.104668907C>G	NCBI36
NG_031932.1:g.5843C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.680C>G MANE Select	ENSP00000358894.3:p.Pro227Arg
ENST00000369875.3:c.680C>G	ENSP00000358891.3:p.Pro227Arg
ENST00000369878.8:c.680C>G	ENSP00000358894.3:p.Pro227Arg
ENST00000433628.2:c.680C>G	ENSP00000392875.2:p.Pro227Arg
NM_017649.4:c.680C>G	NP_060119.3:p.Pro227Arg
NM_199076.2:c.680C>G	NP_951058.1:p.Pro227Arg
NM_199077.2:c.680C>G	NP_951059.1:p.Pro227Arg
XM_005269933.3:c.680C>G	XP_005269990.1:p.Pro227Arg
XM_006717908.2:c.680C>G	XP_006717971.1:p.Pro227Arg
XM_011539911.1:c.680C>G	XP_011538213.1:p.Pro227Arg
XR_945780.1:n.868C>G
XR_945781.1:n.868C>G
XR_945782.1:n.868C>G
XM_005269933.4:c.680C>G	XP_005269990.1:p.Pro227Arg
XM_011539911.3:c.680C>G	XP_011538213.1:p.Pro227Arg
XR_001747118.1:n.868C>G
XR_001747119.2:n.868C>G
XR_001747120.1:n.868C>G
XR_001747121.1:n.868C>G
XR_945782.3:n.868C>G
NM_017649.5:c.680C>G MANE Select	NP_060119.3:p.Pro227Arg
NM_199076.3:c.680C>G	NP_951058.1:p.Pro227Arg
NM_199077.3:c.680C>G	NP_951059.1:p.Pro227Arg