Canonical Allele Identifier: CA723038109
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs531887976
gnomAD v3: 16-67437068-C-G
gnomAD v4: 16-67437068-C-G
MyVariant Identifiers: chr16:g.67470971C>G (hg19) chr16:g.67437068C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437068C>G , CM000678.2:g.67437068C>G GRCh38
NC_000016.9:g.67470971C>G , CM000678.1:g.67470971C>G GRCh37
NC_000016.8:g.66028472C>G NCBI36
NG_011482.1:g.49119G>C
NG_016549.1:g.10936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*65C>G MANE Select ENSP00000316786.5:n.*65C>G
ENST00000326152.5:c.*65C>G ENSP00000316786.5:n.*65C>G
NM_000196.3:c.*65C>G NP_000187.3:n.*65C>G
NM_000196.4:c.*65C>G MANE Select NP_000187.3:n.*65C>G
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