Canonical Allele Identifier: CA543053777

Gene: HYAL2

Linked Data

• dbSNP Id: rs1553716132
• gnomAD v2: 3-50356993-C-A
• gnomAD v3: 3-50319562-C-A
• gnomAD v4: 3-50319562-C-A
• MyVariant Identifiers: chr3:g.50356993C>A (hg19) ; chr3:g.50319562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50319562C>A , CM000665.2:g.50319562C>A	GRCh38
NC_000003.11:g.50356993C>A , CM000665.1:g.50356993C>A	GRCh37
NC_000003.10:g.50331997C>A	NCBI36

Transcript Alleles

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