Canonical Allele Identifier: CA202285929
Community Standard Title: NM_001494.4(GDI2):c.64A>G (p.Ile22Val)
Gene: GDI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.5800687T>C , CM000672.2:g.5800687T>C GRCh38
NC_000010.10:g.5842650T>C , CM000672.1:g.5842650T>C GRCh37
NC_000010.9:g.5882656T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001494.4:c.64A>G MANE Select NP_001485.2:p.Ile22Val
ENST00000380191.9:c.64A>G MANE Select ENSP00000369538.4:p.Ile22Val
NM_001115156.1:c.64A>G NP_001108628.1:p.Ile22Val
NM_001115156.2:c.64A>G NP_001108628.1:p.Ile22Val
NM_001494.3:c.64A>G NP_001485.2:p.Ile22Val
ENST00000380127.5:c.76A>G ENSP00000369470.1:p.Ile26Val
ENST00000380181.7:c.64A>G ENSP00000369528.3:p.Ile22Val
ENST00000380191.8:c.64A>G ENSP00000369538.4:p.Ile22Val
ENST00000418688.5:c.46-3825A>G ENSP00000394177.1:n.46-3825A>G
ENST00000456041.5:c.64A>G ENSP00000401733.1:p.Ile22Val
ENST00000608581.5:c.-3A>G ENSP00000476707.1:n.-3A>G
ENST00000609712.1:c.76A>G ENSP00000476832.1:p.Ile26Val
XM_017016071.2:c.-3A>G XP_016871560.1:n.-3A>G