Canonical Allele Identifier: CA466648983

Gene: ALG2

Linked Data

• MyVariant Identifiers: chr9:g.101983892A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.99221610A>C , CM000671.2:g.99221610A>C	GRCh38
NC_000009.11:g.101983892A>C , CM000671.1:g.101983892A>C	GRCh37
NC_000009.10:g.101023713A>C	NCBI36
NG_008928.1:g.5355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476832.2:c.285T>G MANE Select	ENSP00000417764.1:p.Val95=
ENST00000238477.5:c.285T>G	ENSP00000432675.2:p.Val95=
ENST00000476832.1:c.285T>G	ENSP00000417764.1:p.Val95=
NM_033087.3:c.285T>G	NP_149078.1:p.Val95=
NR_024532.1:n.355T>G
NM_033087.4:c.285T>G MANE Select	NP_149078.1:p.Val95=
NR_024532.2:n.333T>G