Canonical Allele Identifier: CA352909294

Gene: HYAL2

Linked Data

• dbSNP Id: rs1553716215
• gnomAD v2: 3-50357185-T-C
• gnomAD v4: 3-50319754-T-C
• MyVariant Identifiers: chr3:g.50357185T>C (hg19) ; chr3:g.50319754T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50319754T>C , CM000665.2:g.50319754T>C	GRCh38
NC_000003.11:g.50357185T>C , CM000665.1:g.50357185T>C	GRCh37
NC_000003.10:g.50332189T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357750.9:c.736A>G MANE Select	ENSP00000350387.4:p.Thr246Ala
ENST00000357750.8:c.736A>G	ENSP00000350387.4:p.Thr246Ala
ENST00000395139.7:c.736A>G	ENSP00000378571.3:p.Thr246Ala
ENST00000442581.1:c.736A>G	ENSP00000406657.1:p.Thr246Ala
ENST00000447092.5:c.736A>G	ENSP00000401853.1:p.Thr246Ala
ENST00000481597.5:n.871A>G
NM_003773.4:c.736A>G	NP_003764.3:p.Thr246Ala
NM_033158.4:c.736A>G	NP_149348.2:p.Thr246Ala
XM_005265524.1:c.736A>G	XP_005265581.1:p.Thr246Ala
XM_005265525.1:c.736A>G	XP_005265582.1:p.Thr246Ala
XM_005265524.2:c.736A>G	XP_005265581.1:p.Thr246Ala
XM_005265525.2:c.736A>G	XP_005265582.1:p.Thr246Ala
NM_003773.5:c.736A>G MANE Select	NP_003764.3:p.Thr246Ala
NM_033158.5:c.736A>G	NP_149348.2:p.Thr246Ala