Canonical Allele Identifier: CA2633779319
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436152-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436152C>G , CM000678.2:g.67436152C>G GRCh38
NC_000016.9:g.67470055C>G , CM000678.1:g.67470055C>G GRCh37
NC_000016.8:g.66027556C>G NCBI36
NG_011482.1:g.50035G>C
NG_016549.1:g.10020C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.664+10C>G MANE Select ENSP00000316786.5:n.664+10C>G
ENST00000326152.5:c.664+10C>G ENSP00000316786.5:n.664+10C>G
ENST00000567684.2:n.527+10C>G
NM_000196.3:c.664+10C>G NP_000187.3:n.664+10C>G
NM_000196.4:c.664+10C>G MANE Select NP_000187.3:n.664+10C>G
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