Canonical Allele Identifier: CA8110781

Gene: HSD11B2

Linked Data

• ClinVar Variation Id: 1950949
• ClinVar RCV Id: RCV002694905 ; RCV003308223
• dbSNP Id: rs564896195
• ExAC: 16:67470622 C / T
• gnomAD v2: 16-67470622-C-T
• gnomAD v3: 16-67436719-C-T
• gnomAD v4: 16-67436719-C-T
• COSMIC: COSM4061856
• MyVariant Identifiers: chr16:g.67470622C>T (hg19) ; chr16:g.67436719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436719C>T , CM000678.2:g.67436719C>T	GRCh38
NC_000016.9:g.67470622C>T , CM000678.1:g.67470622C>T	GRCh37
NC_000016.8:g.66028123C>T	NCBI36
NG_011482.1:g.49468G>A
NG_016549.1:g.10587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.934C>T MANE Select	ENSP00000316786.5:p.Arg312Cys
ENST00000326152.5:c.934C>T	ENSP00000316786.5:p.Arg312Cys
NM_000196.3:c.934C>T	NP_000187.3:p.Arg312Cys
NM_000196.4:c.934C>T MANE Select	NP_000187.3:p.Arg312Cys