Canonical Allele Identifier: CA196855974
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs867464328
gnomAD v4: 9-99221638-G-A
MyVariant Identifiers: chr9:g.101983920G>A (hg19) chr9:g.99221638G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221638G>A , CM000671.2:g.99221638G>A GRCh38
NC_000009.11:g.101983920G>A , CM000671.1:g.101983920G>A GRCh37
NC_000009.10:g.101023741G>A NCBI36
NG_008928.1:g.5327C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.257C>T MANE Select ENSP00000417764.1:p.Ala86Val
ENST00000238477.5:c.257C>T ENSP00000432675.2:p.Ala86Val
ENST00000476832.1:c.257C>T ENSP00000417764.1:p.Ala86Val
NM_033087.3:c.257C>T NP_149078.1:p.Ala86Val
NR_024532.1:n.327C>T
NM_033087.4:c.257C>T MANE Select NP_149078.1:p.Ala86Val
NR_024532.2:n.305C>T
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