Canonical Allele Identifier: CA396279024
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2432536
ClinVar RCV Id: RCV003131155
MyVariant Identifiers: chr16:g.67469917T>C (hg19) chr16:g.67436014T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436014T>C , CM000678.2:g.67436014T>C GRCh38
NC_000016.9:g.67469917T>C , CM000678.1:g.67469917T>C GRCh37
NC_000016.8:g.66027418T>C NCBI36
NG_011482.1:g.50173A>G
NG_016549.1:g.9882T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.536T>C MANE Select ENSP00000316786.5:p.Leu179Pro
ENST00000326152.5:c.536T>C ENSP00000316786.5:p.Leu179Pro
ENST00000566606.1:c.514T>C ENSP00000473429.1:n.514T>C
ENST00000567684.2:n.399T>C
NM_000196.3:c.536T>C NP_000187.3:p.Leu179Pro
NM_000196.4:c.536T>C MANE Select NP_000187.3:p.Leu179Pro
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