Canonical Allele Identifier: CA496082661
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67469957T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436054T>C , CM000678.2:g.67436054T>C GRCh38
NC_000016.9:g.67469957T>C , CM000678.1:g.67469957T>C GRCh37
NC_000016.8:g.66027458T>C NCBI36
NG_011482.1:g.50133A>G
NG_016549.1:g.9922T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.576T>C MANE Select ENSP00000316786.5:p.Asn192=
ENST00000326152.5:c.576T>C ENSP00000316786.5:p.Asn192=
ENST00000566606.1:c.554T>C ENSP00000473429.1:n.554T>C
ENST00000567684.2:n.439T>C
NM_000196.3:c.576T>C NP_000187.3:p.Asn192=
NM_000196.4:c.576T>C MANE Select NP_000187.3:p.Asn192=