Canonical Allele Identifier: CA623119780
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1337171483
gnomAD v2: 16-67470989-C-CAA
gnomAD v3: 16-67437086-C-CAA
gnomAD v4: 16-67437086-C-CAA
MyVariant Identifiers: chr16:g.67470989_67470990insAA (hg19) chr16:g.67437086_67437087insAA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437086_67437087insAA , CM000678.2:g.67437086_67437087insAA GRCh38
NC_000016.9:g.67470989_67470990insAA , CM000678.1:g.67470989_67470990insAA GRCh37
NC_000016.8:g.66028490_66028491insAA NCBI36
NG_011482.1:g.49100_49101insTT
NG_016549.1:g.10954_10955insAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*83_*84insAA MANE Select ENSP00000316786.5:n.*83_*84insAA
ENST00000326152.5:c.*83_*84insAA ENSP00000316786.5:n.*83_*84insAA
NM_000196.3:c.*83_*84insAA NP_000187.3:n.*83_*84insAA
NM_000196.4:c.*83_*84insAA MANE Select NP_000187.3:n.*83_*84insAA
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