Canonical Allele Identifier: CA282328466
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1054430713
gnomAD v2: 16-67470990-G-A
gnomAD v3: 16-67437087-G-A
gnomAD v4: 16-67437087-G-A
MyVariant Identifiers: chr16:g.67470990G>A (hg19) chr16:g.67437087G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437087G>A , CM000678.2:g.67437087G>A GRCh38
NC_000016.9:g.67470990G>A , CM000678.1:g.67470990G>A GRCh37
NC_000016.8:g.66028491G>A NCBI36
NG_011482.1:g.49100C>T
NG_016549.1:g.10955G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*84G>A MANE Select ENSP00000316786.5:n.*84G>A
ENST00000326152.5:c.*84G>A ENSP00000316786.5:n.*84G>A
NM_000196.3:c.*84G>A NP_000187.3:n.*84G>A
NM_000196.4:c.*84G>A MANE Select NP_000187.3:n.*84G>A
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