Canonical Allele Identifier: CA396279397
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67469976C>A (hg19) chr16:g.67436073C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436073C>A , CM000678.2:g.67436073C>A GRCh38
NC_000016.9:g.67469976C>A , CM000678.1:g.67469976C>A GRCh37
NC_000016.8:g.66027477C>A NCBI36
NG_011482.1:g.50114G>T
NG_016549.1:g.9941C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.595C>A MANE Select ENSP00000316786.5:p.Leu199Met
ENST00000326152.5:c.595C>A ENSP00000316786.5:p.Leu199Met
ENST00000566606.1:c.573C>A ENSP00000473429.1:n.573C>A
ENST00000567684.2:n.458C>A
NM_000196.3:c.595C>A NP_000187.3:p.Leu199Met
NM_000196.4:c.595C>A MANE Select NP_000187.3:p.Leu199Met
Search 100 bp 5'
Search 100 bp 3'