Canonical Allele Identifier: CA352907672

Gene: HYAL2

Linked Data

• COSMIC: COSM3595565
• MyVariant Identifiers: chr3:g.50357173G>A (hg19) ; chr3:g.50319742G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50319742G>A , CM000665.2:g.50319742G>A	GRCh38
NC_000003.11:g.50357173G>A , CM000665.1:g.50357173G>A	GRCh37
NC_000003.10:g.50332177G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357750.9:c.748C>T MANE Select	ENSP00000350387.4:p.Pro250Ser
ENST00000357750.8:c.748C>T	ENSP00000350387.4:p.Pro250Ser
ENST00000395139.7:c.748C>T	ENSP00000378571.3:p.Pro250Ser
ENST00000442581.1:c.748C>T	ENSP00000406657.1:p.Pro250Ser
ENST00000447092.5:c.748C>T	ENSP00000401853.1:p.Pro250Ser
ENST00000481597.5:n.883C>T
NM_003773.4:c.748C>T	NP_003764.3:p.Pro250Ser
NM_033158.4:c.748C>T	NP_149348.2:p.Pro250Ser
XM_005265524.1:c.748C>T	XP_005265581.1:p.Pro250Ser
XM_005265525.1:c.748C>T	XP_005265582.1:p.Pro250Ser
XM_005265524.2:c.748C>T	XP_005265581.1:p.Pro250Ser
XM_005265525.2:c.748C>T	XP_005265582.1:p.Pro250Ser
NM_003773.5:c.748C>T MANE Select	NP_003764.3:p.Pro250Ser
NM_033158.5:c.748C>T	NP_149348.2:p.Pro250Ser