Canonical Allele Identifier: CA396280239
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470174G>T (hg19) chr16:g.67436271G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436271G>T , CM000678.2:g.67436271G>T GRCh38
NC_000016.9:g.67470174G>T , CM000678.1:g.67470174G>T GRCh37
NC_000016.8:g.66027675G>T NCBI36
NG_011482.1:g.49916C>A
NG_016549.1:g.10139G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.687G>T MANE Select ENSP00000316786.5:p.Leu229Phe
ENST00000326152.5:c.687G>T ENSP00000316786.5:p.Leu229Phe
NM_000196.3:c.687G>T NP_000187.3:p.Leu229Phe
NM_000196.4:c.687G>T MANE Select NP_000187.3:p.Leu229Phe
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