Canonical Allele Identifier: CA341396013

Gene: HSD3B2

Linked Data

• ClinVar Variation Id: 2674656
• ClinVar RCV Id: RCV003459900
• MyVariant Identifiers: chr1:g.119964471T>G (hg19) ; chr1:g.119421848T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119421848T>G , CM000663.2:g.119421848T>G	GRCh38
NC_000001.10:g.119964471T>G , CM000663.1:g.119964471T>G	GRCh37
NC_000001.9:g.119765994T>G	NCBI36
NG_013349.1:g.11918T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369416.4:c.347T>G MANE Select	ENSP00000358424.3:p.Val116Gly
ENST00000369416.3:c.347T>G	ENSP00000358424.3:p.Val116Gly
ENST00000433745.5:c.347T>G	ENSP00000388292.1:p.Val116Gly
ENST00000448448.2:n.291T>G
ENST00000543831.5:c.347T>G	ENSP00000445122.1:p.Val116Gly
NM_000198.3:c.347T>G	NP_000189.1:p.Val116Gly
NM_001166120.1:c.347T>G	NP_001159592.1:p.Val116Gly
NM_000198.4:c.347T>G MANE Select	NP_000189.1:p.Val116Gly
NM_001166120.2:c.347T>G	NP_001159592.1:p.Val116Gly