Canonical Allele Identifier: CA8110762
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs767540223
ExAC: 16:67470512 A / T
gnomAD v2: 16-67470512-A-T
gnomAD v4: 16-67436609-A-T
MyVariant Identifiers: chr16:g.67470512A>T (hg19) chr16:g.67436609A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436609A>T , CM000678.2:g.67436609A>T GRCh38
NC_000016.9:g.67470512A>T , CM000678.1:g.67470512A>T GRCh37
NC_000016.8:g.66028013A>T NCBI36
NG_011482.1:g.49578T>A
NG_016549.1:g.10477A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.824A>T MANE Select ENSP00000316786.5:p.Gln275Leu
ENST00000326152.5:c.824A>T ENSP00000316786.5:p.Gln275Leu
NM_000196.3:c.824A>T NP_000187.3:p.Gln275Leu
NM_000196.4:c.824A>T MANE Select NP_000187.3:p.Gln275Leu
Search 100 bp 5'
Search 100 bp 3'