Canonical Allele Identifier: CA8110772
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs747501209
ExAC: 16:67470597 G / A
gnomAD v2: 16-67470597-G-A
gnomAD v3: 16-67436694-G-A
gnomAD v4: 16-67436694-G-A
MyVariant Identifiers: chr16:g.67470597G>A (hg19) chr16:g.67436694G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436694G>A , CM000678.2:g.67436694G>A GRCh38
NC_000016.9:g.67470597G>A , CM000678.1:g.67470597G>A GRCh37
NC_000016.8:g.66028098G>A NCBI36
NG_011482.1:g.49493C>T
NG_016549.1:g.10562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.909G>A MANE Select ENSP00000316786.5:p.Leu303=
ENST00000326152.5:c.909G>A ENSP00000316786.5:p.Leu303=
NM_000196.3:c.909G>A NP_000187.3:p.Leu303=
NM_000196.4:c.909G>A MANE Select NP_000187.3:p.Leu303=
Search 100 bp 5'
Search 100 bp 3'