Canonical Allele Identifier: CA8110651
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2432534
ClinVar RCV Id: RCV003135622
dbSNP Id: rs138853656
ExAC: 16:67469893 A / G
gnomAD v2: 16-67469893-A-G
gnomAD v3: 16-67435990-A-G
gnomAD v4: 16-67435990-A-G
MyVariant Identifiers: chr16:g.67469893A>G (hg19) chr16:g.67435990A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435990A>G , CM000678.2:g.67435990A>G GRCh38
NC_000016.9:g.67469893A>G , CM000678.1:g.67469893A>G GRCh37
NC_000016.8:g.66027394A>G NCBI36
NG_016549.1:g.9858A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.512A>G MANE Select ENSP00000316786.5:p.Asn171Ser
ENST00000326152.5:c.512A>G ENSP00000316786.5:p.Asn171Ser
ENST00000566606.1:c.490A>G ENSP00000473429.1:n.490A>G
ENST00000567684.2:n.375A>G
NM_000196.3:c.512A>G NP_000187.3:p.Asn171Ser
NM_000196.4:c.512A>G MANE Select NP_000187.3:p.Asn171Ser
Search 100 bp 5'
Search 100 bp 3'