Canonical Allele Identifier: CA396285553
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1228542370
gnomAD v2: 16-67470883-C-G
gnomAD v4: 16-67436980-C-G
MyVariant Identifiers: chr16:g.67470883C>G (hg19) chr16:g.67436980C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436980C>G , CM000678.2:g.67436980C>G GRCh38
NC_000016.9:g.67470883C>G , CM000678.1:g.67470883C>G GRCh37
NC_000016.8:g.66028384C>G NCBI36
NG_011482.1:g.49207G>C
NG_016549.1:g.10848C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1195C>G MANE Select ENSP00000316786.5:p.Pro399Ala
ENST00000326152.5:c.1195C>G ENSP00000316786.5:p.Pro399Ala
NM_000196.3:c.1195C>G NP_000187.3:p.Pro399Ala
NM_000196.4:c.1195C>G MANE Select NP_000187.3:p.Pro399Ala
Search 100 bp 5'
Search 100 bp 3'