Canonical Allele Identifier: CA374231784
Gene: ALG2 HGNC NCBI

Linked Data

dbSNP Id: rs1259356707
gnomAD v2: 9-101983951-G-A
gnomAD v4: 9-99221669-G-A
MyVariant Identifiers: chr9:g.101983951G>A (hg19) chr9:g.99221669G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221669G>A , CM000671.2:g.99221669G>A GRCh38
NC_000009.11:g.101983951G>A , CM000671.1:g.101983951G>A GRCh37
NC_000009.10:g.101023772G>A NCBI36
NG_008928.1:g.5296C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.226C>T MANE Select ENSP00000417764.1:p.Pro76Ser
ENST00000238477.5:c.226C>T ENSP00000432675.2:p.Pro76Ser
ENST00000476832.1:c.226C>T ENSP00000417764.1:p.Pro76Ser
NM_033087.3:c.226C>T NP_149078.1:p.Pro76Ser
NR_024532.1:n.296C>T
NM_033087.4:c.226C>T MANE Select NP_149078.1:p.Pro76Ser
NR_024532.2:n.274C>T
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