Canonical Allele Identifier: CA282328470
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs996936782
gnomAD v3: 16-67437091-C-A
gnomAD v4: 16-67437091-C-A
MyVariant Identifiers: chr16:g.67470994C>A (hg19) chr16:g.67437091C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437091C>A , CM000678.2:g.67437091C>A GRCh38
NC_000016.9:g.67470994C>A , CM000678.1:g.67470994C>A GRCh37
NC_000016.8:g.66028495C>A NCBI36
NG_011482.1:g.49096G>T
NG_016549.1:g.10959C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*88C>A MANE Select ENSP00000316786.5:n.*88C>A
ENST00000326152.5:c.*88C>A ENSP00000316786.5:n.*88C>A
NM_000196.3:c.*88C>A NP_000187.3:n.*88C>A
NM_000196.4:c.*88C>A MANE Select NP_000187.3:n.*88C>A
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