Canonical Allele Identifier: CA212328557

Gene: CNNM2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103049861T>C , CM000672.2:g.103049861T>C	GRCh38
NC_000010.10:g.104809618T>C , CM000672.1:g.104809618T>C	GRCh37
NC_000010.9:g.104799608T>C	NCBI36
NG_031932.1:g.136544T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017649.5:c.1765+11T>C MANE Select	NP_060119.3:n.1765+11T>C
ENST00000369878.9:c.1765+11T>C MANE Select	ENSP00000358894.3:n.1765+11T>C
NM_017649.4:c.1765+11T>C	NP_060119.3:n.1765+11T>C
NM_199076.2:c.1765+11T>C	NP_951058.1:n.1765+11T>C
NM_199076.3:c.1765+11T>C	NP_951058.1:n.1765+11T>C
ENST00000369878.8:c.1765+11T>C	ENSP00000358894.3:n.1765+11T>C
ENST00000433628.2:c.1765+11T>C	ENSP00000392875.2:n.1765+11T>C
XR_001747118.1:n.1953+11T>C
XR_001747119.2:n.1953+11T>C
XR_001747121.1:n.2048+11T>C
XR_945780.1:n.1953+11T>C