Canonical Allele Identifier: CA2633780183
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436562-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436562C>T , CM000678.2:g.67436562C>T GRCh38
NC_000016.9:g.67470465C>T , CM000678.1:g.67470465C>T GRCh37
NC_000016.8:g.66027966C>T NCBI36
NG_011482.1:g.49625G>A
NG_016549.1:g.10430C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.803-26C>T MANE Select ENSP00000316786.5:n.803-26C>T
ENST00000326152.5:c.803-26C>T ENSP00000316786.5:n.803-26C>T
NM_000196.3:c.803-26C>T NP_000187.3:n.803-26C>T
NM_000196.4:c.803-26C>T MANE Select NP_000187.3:n.803-26C>T
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