Canonical Allele Identifier: CA931978028

Gene: CNNM2

Linked Data

• dbSNP Id: rs1280565052
• gnomAD v3: 10-102959316-A-C
• gnomAD v4: 10-102959316-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102959316A>C , CM000672.2:g.102959316A>C	GRCh38
NC_000010.10:g.104719073A>C , CM000672.1:g.104719073A>C	GRCh37
NC_000010.9:g.104709063A>C	NCBI36
NG_031932.1:g.45999A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369878.9:c.1621+39215A>C MANE Select	ENSP00000358894.3:n.1621+39215A>C
ENST00000369878.8:c.1621+39215A>C	ENSP00000358894.3:n.1621+39215A>C
ENST00000433628.2:c.1621+39215A>C	ENSP00000392875.2:n.1621+39215A>C
NM_017649.4:c.1621+39215A>C	NP_060119.3:n.1621+39215A>C
NM_199076.2:c.1621+39215A>C	NP_951058.1:n.1621+39215A>C
XR_945780.1:n.1809+39215A>C
XR_945781.1:n.1809+39215A>C
XR_945782.1:n.1809+39215A>C
XR_001747118.1:n.1809+39215A>C
XR_001747119.2:n.1809+39215A>C
XR_001747121.1:n.1809+39215A>C
XR_945782.3:n.1809+39215A>C
NM_017649.5:c.1621+39215A>C MANE Select	NP_060119.3:n.1621+39215A>C
NM_199076.3:c.1621+39215A>C	NP_951058.1:n.1621+39215A>C