Canonical Allele Identifier: CA396279384
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67469974A>C (hg19) chr16:g.67436071A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436071A>C , CM000678.2:g.67436071A>C GRCh38
NC_000016.9:g.67469974A>C , CM000678.1:g.67469974A>C GRCh37
NC_000016.8:g.66027475A>C NCBI36
NG_011482.1:g.50116T>G
NG_016549.1:g.9939A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.593A>C MANE Select ENSP00000316786.5:p.Glu198Ala
ENST00000326152.5:c.593A>C ENSP00000316786.5:p.Glu198Ala
ENST00000566606.1:c.571A>C ENSP00000473429.1:n.571A>C
ENST00000567684.2:n.456A>C
NM_000196.3:c.593A>C NP_000187.3:p.Glu198Ala
NM_000196.4:c.593A>C MANE Select NP_000187.3:p.Glu198Ala
Search 100 bp 5'
Search 100 bp 3'