Canonical Allele Identifier: CA2416202

Gene: HYAL2

Linked Data

• dbSNP Id: rs782064350
• ExAC: 3:50356984 C / T
• gnomAD v2: 3-50356984-C-T
• gnomAD v4: 3-50319553-C-T
• MyVariant Identifiers: chr3:g.50356984C>T (hg19) ; chr3:g.50319553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50319553C>T , CM000665.2:g.50319553C>T	GRCh38
NC_000003.11:g.50356984C>T , CM000665.1:g.50356984C>T	GRCh37
NC_000003.10:g.50331988C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000357750.9:c.921+16G>A MANE Select	ENSP00000350387.4:n.921+16G>A
ENST00000357750.8:c.921+16G>A	ENSP00000350387.4:n.921+16G>A
ENST00000395139.7:c.921+16G>A	ENSP00000378571.3:n.921+16G>A
ENST00000442581.1:c.921+16G>A	ENSP00000406657.1:n.921+16G>A
ENST00000447092.5:c.921+16G>A	ENSP00000401853.1:n.921+16G>A
ENST00000481597.5:n.1056+16G>A
NM_003773.4:c.921+16G>A	NP_003764.3:n.921+16G>A
NM_033158.4:c.921+16G>A	NP_149348.2:n.921+16G>A
XM_005265524.1:c.921+16G>A	XP_005265581.1:n.921+16G>A
XM_005265525.1:c.921+16G>A	XP_005265582.1:n.921+16G>A
XM_005265524.2:c.921+16G>A	XP_005265581.1:n.921+16G>A
XM_005265525.2:c.921+16G>A	XP_005265582.1:n.921+16G>A
NM_003773.5:c.921+16G>A MANE Select	NP_003764.3:n.921+16G>A
NM_033158.5:c.921+16G>A	NP_149348.2:n.921+16G>A