Canonical Allele Identifier: CA1932935150
Gene: CNNM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102988961A>T , CM000672.2:g.102988961A>T GRCh38
NC_000010.10:g.104748718A>T , CM000672.1:g.104748718A>T GRCh37
NC_000010.9:g.104738708A>T NCBI36
NG_031932.1:g.75644A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369878.9:c.1622-60746A>T MANE Select ENSP00000358894.3:n.1622-60746A>T
ENST00000369878.8:c.1622-60746A>T ENSP00000358894.3:n.1622-60746A>T
ENST00000433628.2:c.1622-60746A>T ENSP00000392875.2:n.1622-60746A>T
NM_017649.4:c.1622-60746A>T NP_060119.3:n.1622-60746A>T
NM_199076.2:c.1622-60746A>T NP_951058.1:n.1622-60746A>T
XR_945780.1:n.1810-60746A>T
XR_945781.1:n.1810-38404A>T
XR_945782.1:n.1810-38404A>T
XR_001747118.1:n.1810-60746A>T
XR_001747119.2:n.1810-60746A>T
XR_001747121.1:n.1810-38404A>T
XR_945782.3:n.1810-38404A>T
NM_017649.5:c.1622-60746A>T MANE Select NP_060119.3:n.1622-60746A>T
NM_199076.3:c.1622-60746A>T NP_951058.1:n.1622-60746A>T