Canonical Allele Identifier: CA8110673
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs757425144
ExAC: 16:67469984 G / A
gnomAD v2: 16-67469984-G-A
gnomAD v3: 16-67436081-G-A
gnomAD v4: 16-67436081-G-A
MyVariant Identifiers: chr16:g.67469984G>A (hg19) chr16:g.67436081G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436081G>A , CM000678.2:g.67436081G>A GRCh38
NC_000016.9:g.67469984G>A , CM000678.1:g.67469984G>A GRCh37
NC_000016.8:g.66027485G>A NCBI36
NG_011482.1:g.50106C>T
NG_016549.1:g.9949G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.603G>A MANE Select ENSP00000316786.5:p.Lys201=
ENST00000326152.5:c.603G>A ENSP00000316786.5:p.Lys201=
ENST00000566606.1:c.581G>A ENSP00000473429.1:n.581G>A
ENST00000567684.2:n.466G>A
NM_000196.3:c.603G>A NP_000187.3:p.Lys201=
NM_000196.4:c.603G>A MANE Select NP_000187.3:p.Lys201=
Search 100 bp 5'
Search 100 bp 3'