Canonical Allele Identifier: CA1867298447
Community Standard Title: NM_033087.4(ALG2):c.203T= (p.Val68=)
Gene: ALG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221692A= , CM000671.2:g.99221692A= GRCh38
NC_000009.11:g.101983974A= , CM000671.1:g.101983974A= GRCh37
NC_000009.10:g.101023795A= NCBI36
NG_008928.1:g.5273T=

Transcript Alleles

HGVS Amino-acid Change
NM_033087.4:c.203T= MANE Select NP_149078.1:p.Val68=
ENST00000476832.2:c.203T= MANE Select ENSP00000417764.1:p.Val68=
NM_033087.3:c.203T= NP_149078.1:p.Val68=
NR_024532.1:n.273T=
NR_024532.2:n.251T=
ENST00000238477.5:c.203T= ENSP00000432675.2:p.Val68=
ENST00000476832.1:c.203T= ENSP00000417764.1:p.Val68=