Canonical Allele Identifier: CA471494563

Gene: CNNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102919455G>C , CM000672.2:g.102919455G>C	GRCh38
NC_000010.10:g.104679212G>C , CM000672.1:g.104679212G>C	GRCh37
NC_000010.9:g.104669202G>C	NCBI36
NG_031932.1:g.6138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.975G>C MANE Select	ENSP00000358894.3:p.Leu325=
ENST00000369875.3:c.975G>C	ENSP00000358891.3:p.Leu325=
ENST00000369878.8:c.975G>C	ENSP00000358894.3:p.Leu325=
ENST00000433628.2:c.975G>C	ENSP00000392875.2:p.Leu325=
NM_017649.4:c.975G>C	NP_060119.3:p.Leu325=
NM_199076.2:c.975G>C	NP_951058.1:p.Leu325=
NM_199077.2:c.975G>C	NP_951059.1:p.Leu325=
XM_005269933.3:c.975G>C	XP_005269990.1:p.Leu325=
XM_006717908.2:c.975G>C	XP_006717971.1:p.Leu325=
XM_011539911.1:c.975G>C	XP_011538213.1:p.Leu325=
XR_945780.1:n.1163G>C
XR_945781.1:n.1163G>C
XR_945782.1:n.1163G>C
XM_005269933.4:c.975G>C	XP_005269990.1:p.Leu325=
XM_011539911.3:c.975G>C	XP_011538213.1:p.Leu325=
XR_001747118.1:n.1163G>C
XR_001747119.2:n.1163G>C
XR_001747120.1:n.1163G>C
XR_001747121.1:n.1163G>C
XR_945782.3:n.1163G>C
NM_017649.5:c.975G>C MANE Select	NP_060119.3:p.Leu325=
NM_199076.3:c.975G>C	NP_951058.1:p.Leu325=
NM_199077.3:c.975G>C	NP_951059.1:p.Leu325=