Canonical Allele Identifier: CA433864299
Gene: HYAL2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.50357192A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50319761A>T , CM000665.2:g.50319761A>T GRCh38
NC_000003.11:g.50357192A>T , CM000665.1:g.50357192A>T GRCh37
NC_000003.10:g.50332196A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357750.9:c.729T>A MANE Select ENSP00000350387.4:p.Ala243=
ENST00000357750.8:c.729T>A ENSP00000350387.4:p.Ala243=
ENST00000395139.7:c.729T>A ENSP00000378571.3:p.Ala243=
ENST00000442581.1:c.729T>A ENSP00000406657.1:p.Ala243=
ENST00000447092.5:c.729T>A ENSP00000401853.1:p.Ala243=
ENST00000481597.5:n.864T>A
NM_003773.4:c.729T>A NP_003764.3:p.Ala243=
NM_033158.4:c.729T>A NP_149348.2:p.Ala243=
XM_005265524.1:c.729T>A XP_005265581.1:p.Ala243=
XM_005265525.1:c.729T>A XP_005265582.1:p.Ala243=
XM_005265524.2:c.729T>A XP_005265581.1:p.Ala243=
XM_005265525.2:c.729T>A XP_005265582.1:p.Ala243=
NM_003773.5:c.729T>A MANE Select NP_003764.3:p.Ala243=
NM_033158.5:c.729T>A NP_149348.2:p.Ala243=