Canonical Allele Identifier: CA433691095

Gene: HYAL2

Linked Data

• gnomAD v4: 3-50319743-G-A
• MyVariant Identifiers: chr3:g.50357174G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50319743G>A , CM000665.2:g.50319743G>A	GRCh38
NC_000003.11:g.50357174G>A , CM000665.1:g.50357174G>A	GRCh37
NC_000003.10:g.50332178G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357750.9:c.747C>T MANE Select	ENSP00000350387.4:p.Phe249=
ENST00000357750.8:c.747C>T	ENSP00000350387.4:p.Phe249=
ENST00000395139.7:c.747C>T	ENSP00000378571.3:p.Phe249=
ENST00000442581.1:c.747C>T	ENSP00000406657.1:p.Phe249=
ENST00000447092.5:c.747C>T	ENSP00000401853.1:p.Phe249=
ENST00000481597.5:n.882C>T
NM_003773.4:c.747C>T	NP_003764.3:p.Phe249=
NM_033158.4:c.747C>T	NP_149348.2:p.Phe249=
XM_005265524.1:c.747C>T	XP_005265581.1:p.Phe249=
XM_005265525.1:c.747C>T	XP_005265582.1:p.Phe249=
XM_005265524.2:c.747C>T	XP_005265581.1:p.Phe249=
XM_005265525.2:c.747C>T	XP_005265582.1:p.Phe249=
NM_003773.5:c.747C>T MANE Select	NP_003764.3:p.Phe249=
NM_033158.5:c.747C>T	NP_149348.2:p.Phe249=