Canonical Allele Identifier: CA14950160
Gene: HORMAD2 HGNC NCBI

Linked Data

dbSNP Id: rs2412973
gnomAD v2: 22-30529631-C-A
gnomAD v3: 22-30133642-C-A
gnomAD v4: 22-30133642-C-A
MyVariant Identifiers: chr22:g.30529631C>A (hg19) chr22:g.30133642C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.30133642C>A , CM000684.2:g.30133642C>A GRCh38
NC_000022.10:g.30529631C>A , CM000684.1:g.30529631C>A GRCh37
NC_000022.9:g.28859631C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336726.11:c.819+11428C>A MANE Select ENSP00000336984.6:n.819+11428C>A
ENST00000336726.10:c.819+11428C>A ENSP00000336984.6:n.819+11428C>A
ENST00000403975.1:c.819+11428C>A ENSP00000385055.1:n.819+11428C>A
NM_152510.2:c.819+11428C>A NP_689723.1:n.819+11428C>A
XM_006724147.2:c.819+11428C>A XP_006724210.2:n.819+11428C>A
XM_011529913.1:c.819+11428C>A XP_011528215.1:n.819+11428C>A
XM_011529914.1:c.819+11428C>A XP_011528216.1:n.819+11428C>A
XM_011529915.1:c.819+11428C>A XP_011528217.1:n.819+11428C>A
XM_011529916.1:c.819+11428C>A XP_011528218.1:n.819+11428C>A
XM_011529917.1:c.819+11428C>A XP_011528219.1:n.819+11428C>A
XM_011529919.1:c.555+11428C>A XP_011528221.1:n.555+11428C>A
NM_001329457.1:c.819+11428C>A NP_001316386.1:n.819+11428C>A
NM_001329458.1:c.555+11428C>A NP_001316387.1:n.555+11428C>A
NM_152510.3:c.819+11428C>A NP_689723.1:n.819+11428C>A
XM_011529914.2:c.819+11428C>A XP_011528216.1:n.819+11428C>A
XM_011529917.3:c.819+11428C>A XP_011528219.1:n.819+11428C>A
XM_017028621.1:c.819+11428C>A XP_016884110.1:n.819+11428C>A
XM_017028622.1:c.819+11428C>A XP_016884111.1:n.819+11428C>A
XM_017028624.1:c.555+11428C>A XP_016884113.1:n.555+11428C>A
XM_017028625.1:c.507+11428C>A XP_016884114.1:n.507+11428C>A
XM_017028626.1:c.417+11428C>A XP_016884115.1:n.417+11428C>A
NM_001329457.2:c.819+11428C>A NP_001316386.1:n.819+11428C>A
NM_001329458.2:c.555+11428C>A NP_001316387.1:n.555+11428C>A
NM_152510.4:c.819+11428C>A MANE Select NP_689723.1:n.819+11428C>A
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