Canonical Allele Identifier: CA8110678
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs777443034
ExAC: 16:67470044 G / A
gnomAD v2: 16-67470044-G-A
gnomAD v3: 16-67436141-G-A
gnomAD v4: 16-67436141-G-A
MyVariant Identifiers: chr16:g.67470044G>A (hg19) chr16:g.67436141G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436141G>A , CM000678.2:g.67436141G>A GRCh38
NC_000016.9:g.67470044G>A , CM000678.1:g.67470044G>A GRCh37
NC_000016.8:g.66027545G>A NCBI36
NG_011482.1:g.50046C>T
NG_016549.1:g.10009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.663G>A MANE Select ENSP00000316786.5:p.Ala221=
ENST00000326152.5:c.663G>A ENSP00000316786.5:p.Ala221=
ENST00000567684.2:n.526G>A
NM_000196.3:c.663G>A NP_000187.3:p.Ala221=
NM_000196.4:c.663G>A MANE Select NP_000187.3:p.Ala221=
Search 100 bp 5'
Search 100 bp 3'