Canonical Allele Identifier: CA8110661
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs774383256
ExAC: 16:67469943 T / A
gnomAD v2: 16-67469943-T-A
gnomAD v3: 16-67436040-T-A
gnomAD v4: 16-67436040-T-A
MyVariant Identifiers: chr16:g.67469943T>A (hg19) chr16:g.67436040T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436040T>A , CM000678.2:g.67436040T>A GRCh38
NC_000016.9:g.67469943T>A , CM000678.1:g.67469943T>A GRCh37
NC_000016.8:g.66027444T>A NCBI36
NG_011482.1:g.50147A>T
NG_016549.1:g.9908T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.562T>A MANE Select ENSP00000316786.5:p.Cys188Ser
ENST00000326152.5:c.562T>A ENSP00000316786.5:p.Cys188Ser
ENST00000566606.1:c.540T>A ENSP00000473429.1:n.540T>A
ENST00000567684.2:n.425T>A
NM_000196.3:c.562T>A NP_000187.3:p.Cys188Ser
NM_000196.4:c.562T>A MANE Select NP_000187.3:p.Cys188Ser
Search 100 bp 5'
Search 100 bp 3'