Canonical Allele Identifier: CA595229497

Gene: CNNM2

Linked Data

• dbSNP Id: rs1460766027
• gnomAD v2: 10-104719021-A-G
• gnomAD v3: 10-102959264-A-G
• gnomAD v4: 10-102959264-A-G
• MyVariant Identifiers: chr10:g.104719021A>G (hg19) ; chr10:g.102959264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102959264A>G , CM000672.2:g.102959264A>G	GRCh38
NC_000010.10:g.104719021A>G , CM000672.1:g.104719021A>G	GRCh37
NC_000010.9:g.104709011A>G	NCBI36
NG_031932.1:g.45947A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369878.9:c.1621+39163A>G MANE Select	ENSP00000358894.3:n.1621+39163A>G
ENST00000369878.8:c.1621+39163A>G	ENSP00000358894.3:n.1621+39163A>G
ENST00000433628.2:c.1621+39163A>G	ENSP00000392875.2:n.1621+39163A>G
NM_017649.4:c.1621+39163A>G	NP_060119.3:n.1621+39163A>G
NM_199076.2:c.1621+39163A>G	NP_951058.1:n.1621+39163A>G
XR_945780.1:n.1809+39163A>G
XR_945781.1:n.1809+39163A>G
XR_945782.1:n.1809+39163A>G
XR_001747118.1:n.1809+39163A>G
XR_001747119.2:n.1809+39163A>G
XR_001747121.1:n.1809+39163A>G
XR_945782.3:n.1809+39163A>G
NM_017649.5:c.1621+39163A>G MANE Select	NP_060119.3:n.1621+39163A>G
NM_199076.3:c.1621+39163A>G	NP_951058.1:n.1621+39163A>G