Canonical Allele Identifier: CA8110656
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs747223797
ExAC: 16:67469901 G / C
gnomAD v2: 16-67469901-G-C
gnomAD v4: 16-67435998-G-C
MyVariant Identifiers: chr16:g.67469901G>C (hg19) chr16:g.67435998G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435998G>C , CM000678.2:g.67435998G>C GRCh38
NC_000016.9:g.67469901G>C , CM000678.1:g.67469901G>C GRCh37
NC_000016.8:g.66027402G>C NCBI36
NG_016549.1:g.9866G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.520G>C MANE Select ENSP00000316786.5:p.Val174Leu
ENST00000326152.5:c.520G>C ENSP00000316786.5:p.Val174Leu
ENST00000566606.1:c.498G>C ENSP00000473429.1:n.498G>C
ENST00000567684.2:n.383G>C
NM_000196.3:c.520G>C NP_000187.3:p.Val174Leu
NM_000196.4:c.520G>C MANE Select NP_000187.3:p.Val174Leu
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