Canonical Allele Identifier: CA495989746
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1212881242
gnomAD v2: 16-67469550-C-T
MyVariant Identifiers: chr16:g.67469550C>T (hg19) chr16:g.67435647C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435647C>T , CM000678.2:g.67435647C>T GRCh38
NC_000016.9:g.67469550C>T , CM000678.1:g.67469550C>T GRCh37
NC_000016.8:g.66027051C>T NCBI36
NG_016549.1:g.9515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.285C>T MANE Select ENSP00000316786.5:p.Gly95=
ENST00000326152.5:c.285C>T ENSP00000316786.5:p.Gly95=
ENST00000566606.1:c.263C>T ENSP00000473429.1:n.263C>T
ENST00000567684.2:n.148C>T
NM_000196.3:c.285C>T NP_000187.3:p.Gly95=
NM_000196.4:c.285C>T MANE Select NP_000187.3:p.Gly95=
Search 100 bp 5'
Search 100 bp 3'