Canonical Allele Identifier: CA8110776
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs745899701
ExAC: 16:67470609 C / G
gnomAD v2: 16-67470609-C-G
gnomAD v4: 16-67436706-C-G
COSMIC: COSM703859
MyVariant Identifiers: chr16:g.67470609C>G (hg19) chr16:g.67436706C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436706C>G , CM000678.2:g.67436706C>G GRCh38
NC_000016.9:g.67470609C>G , CM000678.1:g.67470609C>G GRCh37
NC_000016.8:g.66028110C>G NCBI36
NG_011482.1:g.49481G>C
NG_016549.1:g.10574C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.921C>G MANE Select ENSP00000316786.5:p.Phe307Leu
ENST00000326152.5:c.921C>G ENSP00000316786.5:p.Phe307Leu
NM_000196.3:c.921C>G NP_000187.3:p.Phe307Leu
NM_000196.4:c.921C>G MANE Select NP_000187.3:p.Phe307Leu
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