Canonical Allele Identifier: CA595234928

Gene: CNNM2

Linked Data

• dbSNP Id: rs1449615031
• gnomAD v2: 10-104846120-CAT-C
• gnomAD v3: 10-103086363-CAT-C
• gnomAD v4: 10-103086363-CAT-C
• MyVariant Identifiers: chr10:g.104846121_104846122del (hg19) ; chr10:g.103086364_103086365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.103086365_103086366del , CM000672.2:g.103086365_103086366del	GRCh38
NC_000010.10:g.104846122_104846123del , CM000672.1:g.104846122_104846123del	GRCh37
NC_000010.9:g.104836112_104836113del	NCBI36
NG_042272.1:g.111942_111943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369878.9:c.*9185_*9186del MANE Select	ENSP00000358894.3:n.*9185_*9186del
ENST00000369878.8:c.*9185_*9186del	ENSP00000358894.3:n.*9185_*9186del
XR_001747118.1:n.12066_12067del
XR_001747121.1:n.12030_12031del
NM_017649.5:c.*9185_*9186del MANE Select	NP_060119.3:n.*9185_*9186del
NM_199076.3:c.*9185_*9186del	NP_951058.1:n.*9185_*9186del