Canonical Allele Identifier: CA495992415
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2040980486
gnomAD v3: 16-67436898-T-C
gnomAD v4: 16-67436898-T-C
MyVariant Identifiers: chr16:g.67470801T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436898T>C , CM000678.2:g.67436898T>C GRCh38
NC_000016.9:g.67470801T>C , CM000678.1:g.67470801T>C GRCh37
NC_000016.8:g.66028302T>C NCBI36
NG_011482.1:g.49289A>G
NG_016549.1:g.10766T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1113T>C MANE Select ENSP00000316786.5:p.Cys371=
ENST00000326152.5:c.1113T>C ENSP00000316786.5:p.Cys371=
NM_000196.3:c.1113T>C NP_000187.3:p.Cys371=
NM_000196.4:c.1113T>C MANE Select NP_000187.3:p.Cys371=
Search 100 bp 5'
Search 100 bp 3'