Canonical Allele Identifier: CA496083083
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470681A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436778A>C , CM000678.2:g.67436778A>C GRCh38
NC_000016.9:g.67470681A>C , CM000678.1:g.67470681A>C GRCh37
NC_000016.8:g.66028182A>C NCBI36
NG_011482.1:g.49409T>G
NG_016549.1:g.10646A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.993A>C MANE Select ENSP00000316786.5:p.Ala331=
ENST00000326152.5:c.993A>C ENSP00000316786.5:p.Ala331=
NM_000196.3:c.993A>C NP_000187.3:p.Ala331=
NM_000196.4:c.993A>C MANE Select NP_000187.3:p.Ala331=