Canonical Allele Identifier: CA8110795
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs375919297
ExAC: 16:67470691 C / T
gnomAD v2: 16-67470691-C-T
gnomAD v3: 16-67436788-C-T
gnomAD v4: 16-67436788-C-T
MyVariant Identifiers: chr16:g.67470691C>T (hg19) chr16:g.67436788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436788C>T , CM000678.2:g.67436788C>T GRCh38
NC_000016.9:g.67470691C>T , CM000678.1:g.67470691C>T GRCh37
NC_000016.8:g.66028192C>T NCBI36
NG_011482.1:g.49399G>A
NG_016549.1:g.10656C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1003C>T MANE Select ENSP00000316786.5:p.Arg335Cys
ENST00000326152.5:c.1003C>T ENSP00000316786.5:p.Arg335Cys
NM_000196.3:c.1003C>T NP_000187.3:p.Arg335Cys
NM_000196.4:c.1003C>T MANE Select NP_000187.3:p.Arg335Cys
Search 100 bp 5'
Search 100 bp 3'