Canonical Allele Identifier: CA496082983
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2040976507
gnomAD v3: 16-67436631-G-A
gnomAD v4: 16-67436631-G-A
MyVariant Identifiers: chr16:g.67470534G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436631G>A , CM000678.2:g.67436631G>A GRCh38
NC_000016.9:g.67470534G>A , CM000678.1:g.67470534G>A GRCh37
NC_000016.8:g.66028035G>A NCBI36
NG_011482.1:g.49556C>T
NG_016549.1:g.10499G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.846G>A MANE Select ENSP00000316786.5:p.Leu282=
ENST00000326152.5:c.846G>A ENSP00000316786.5:p.Leu282=
NM_000196.3:c.846G>A NP_000187.3:p.Leu282=
NM_000196.4:c.846G>A MANE Select NP_000187.3:p.Leu282=
Search 100 bp 5'
Search 100 bp 3'