Canonical Allele Identifier: CA396285614

Gene: HSD11B2

Linked Data

• MyVariant Identifiers: chr16:g.67470889C>T (hg19) ; chr16:g.67436986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436986C>T , CM000678.2:g.67436986C>T	GRCh38
NC_000016.9:g.67470889C>T , CM000678.1:g.67470889C>T	GRCh37
NC_000016.8:g.66028390C>T	NCBI36
NG_011482.1:g.49201G>A
NG_016549.1:g.10854C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.1201C>T MANE Select	ENSP00000316786.5:p.Pro401Ser
ENST00000326152.5:c.1201C>T	ENSP00000316786.5:p.Pro401Ser
NM_000196.3:c.1201C>T	NP_000187.3:p.Pro401Ser
NM_000196.4:c.1201C>T MANE Select	NP_000187.3:p.Pro401Ser