Canonical Allele Identifier: CA8110840
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs775474004
ExAC: 16:67470911 T / G
gnomAD v2: 16-67470911-T-G
gnomAD v4: 16-67437008-T-G
MyVariant Identifiers: chr16:g.67470911T>G (hg19) chr16:g.67437008T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437008T>G , CM000678.2:g.67437008T>G GRCh38
NC_000016.9:g.67470911T>G , CM000678.1:g.67470911T>G GRCh37
NC_000016.8:g.66028412T>G NCBI36
NG_011482.1:g.49179A>C
NG_016549.1:g.10876T>G

Transcript Alleles

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