Canonical Allele Identifier: CA543053780

Gene: HYAL2

Linked Data

• dbSNP Id: rs1553716134
• gnomAD v2: 3-50356997-T-C
• gnomAD v4: 3-50319566-T-C
• MyVariant Identifiers: chr3:g.50356997T>C (hg19) ; chr3:g.50319566T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50319566T>C , CM000665.2:g.50319566T>C	GRCh38
NC_000003.11:g.50356997T>C , CM000665.1:g.50356997T>C	GRCh37
NC_000003.10:g.50332001T>C	NCBI36

Transcript Alleles

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