Canonical Allele Identifier: CA723037979
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs1436039700
gnomAD v3: 16-67436970-GA-G
gnomAD v4: 16-67436970-GA-G
MyVariant Identifiers: chr16:g.67470874del (hg19) chr16:g.67436971del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436971del , CM000678.2:g.67436971del GRCh38
NC_000016.9:g.67470874del , CM000678.1:g.67470874del GRCh37
NC_000016.8:g.66028375del NCBI36
NG_011482.1:g.49216del
NG_016549.1:g.10839del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1186del MANE Select ENSP00000316786.5:p.Ser396AlafsTer?
ENST00000326152.5:c.1186del ENSP00000316786.5:p.Ser396AlafsTer?
NM_000196.3:c.1186del NP_000187.3:p.Ser396AlafsTer?
NM_000196.4:c.1186del MANE Select NP_000187.3:p.Ser396AlafsTer?
Search 100 bp 5'
Search 100 bp 3'