Canonical Allele Identifier: CA623119577
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1567530546
gnomAD v2: 16-67470089-T-G
gnomAD v3: 16-67436186-T-G
gnomAD v4: 16-67436186-T-G
MyVariant Identifiers: chr16:g.67470089_67470090delinsGG (hg19) chr16:g.67436186_67436187delinsGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436186T>G , CM000678.2:g.67436186T>G GRCh38
NC_000016.9:g.67470089T>G , CM000678.1:g.67470089T>G GRCh37
NC_000016.8:g.66027590T>G NCBI36
NG_011482.1:g.50001A>C
NG_016549.1:g.10054T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.664+44T>G MANE Select ENSP00000316786.5:n.664+44T>G
ENST00000326152.5:c.664+44T>G ENSP00000316786.5:n.664+44T>G
ENST00000567684.2:n.527+44T>G
NM_000196.3:c.664+44T>G NP_000187.3:n.664+44T>G
NM_000196.4:c.664+44T>G MANE Select NP_000187.3:n.664+44T>G
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