Canonical Allele Identifier: CA396279353
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2040857
ClinVar RCV Id: RCV002890822
MyVariant Identifiers: chr16:g.67469968C>G (hg19) chr16:g.67436065C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436065C>G , CM000678.2:g.67436065C>G GRCh38
NC_000016.9:g.67469968C>G , CM000678.1:g.67469968C>G GRCh37
NC_000016.8:g.66027469C>G NCBI36
NG_011482.1:g.50122G>C
NG_016549.1:g.9933C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.587C>G MANE Select ENSP00000316786.5:p.Ala196Gly
ENST00000326152.5:c.587C>G ENSP00000316786.5:p.Ala196Gly
ENST00000566606.1:c.565C>G ENSP00000473429.1:n.565C>G
ENST00000567684.2:n.450C>G
NM_000196.3:c.587C>G NP_000187.3:p.Ala196Gly
NM_000196.4:c.587C>G MANE Select NP_000187.3:p.Ala196Gly
Search 100 bp 5'
Search 100 bp 3'