Canonical Allele Identifier: CA352907703
Gene: HYAL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50319745A>C , CM000665.2:g.50319745A>C GRCh38
NC_000003.11:g.50357176A>C , CM000665.1:g.50357176A>C GRCh37
NC_000003.10:g.50332180A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000357750.9:c.745T>G MANE Select ENSP00000350387.4:p.Phe249Val
ENST00000357750.8:c.745T>G ENSP00000350387.4:p.Phe249Val
ENST00000395139.7:c.745T>G ENSP00000378571.3:p.Phe249Val
ENST00000442581.1:c.745T>G ENSP00000406657.1:p.Phe249Val
ENST00000447092.5:c.745T>G ENSP00000401853.1:p.Phe249Val
ENST00000481597.5:n.880T>G
NM_003773.4:c.745T>G NP_003764.3:p.Phe249Val
NM_033158.4:c.745T>G NP_149348.2:p.Phe249Val
XM_005265524.1:c.745T>G XP_005265581.1:p.Phe249Val
XM_005265525.1:c.745T>G XP_005265582.1:p.Phe249Val
XM_005265524.2:c.745T>G XP_005265581.1:p.Phe249Val
XM_005265525.2:c.745T>G XP_005265582.1:p.Phe249Val
NM_003773.5:c.745T>G MANE Select NP_003764.3:p.Phe249Val
NM_033158.5:c.745T>G NP_149348.2:p.Phe249Val