Canonical Allele Identifier: CA8110569
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs747267660
ExAC: 16:67469438 G / A
gnomAD v2: 16-67469438-G-A
gnomAD v3: 16-67435535-G-A
gnomAD v4: 16-67435535-G-A
MyVariant Identifiers: chr16:g.67469438G>A (hg19) chr16:g.67435535G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435535G>A , CM000678.2:g.67435535G>A GRCh38
NC_000016.9:g.67469438G>A , CM000678.1:g.67469438G>A GRCh37
NC_000016.8:g.66026939G>A NCBI36
NG_016549.1:g.9403G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.266-93G>A MANE Select ENSP00000316786.5:n.266-93G>A
ENST00000326152.5:c.266-93G>A ENSP00000316786.5:n.266-93G>A
ENST00000566606.1:c.151G>A ENSP00000473429.1:p.Ala51Thr
ENST00000567684.2:n.129-93G>A
NM_000196.3:c.266-93G>A NP_000187.3:n.266-93G>A
NM_000196.4:c.266-93G>A MANE Select NP_000187.3:n.266-93G>A
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