Canonical Allele Identifier: CA185977

Gene: EIF3G PPAN-P2RY11 P2RY11

Linked Data

• ClinVar Variation Id: 180728
• ClinVar RCV Id: RCV000161132
• dbSNP Id: rs2305795
• gnomAD v2: 19-10226052-G-A
• gnomAD v3: 19-10115376-G-A
• gnomAD v4: 19-10115376-G-A
• MyVariant Identifiers: chr19:g.10226052G>A (hg19) ; chr19:g.10115376G>A (hg38)
• PubMed: PMID:25669430

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10115376G>A , CM000681.2:g.10115376G>A	GRCh38
NC_000019.9:g.10226052G>A , CM000681.1:g.10226052G>A	GRCh37
NC_000019.8:g.10087052G>A	NCBI36
NG_047007.1:g.8856G>A
NG_051197.1:g.9549C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253108.9:c.947+103C>T (EIF3G) MANE Select	ENSP00000253108.3:n.947+103C>T
ENST00000253108.8:c.947+103C>T (EIF3G)	ENSP00000253108.3:n.947+103C>T
ENST00000590158.1:n.966+103C>T (EIF3G)
ENST00000593054.5:c.341+103C>T (EIF3G)	ENSP00000467187.1:n.341+103C>T
NM_001040664.2:c.*638G>A (PPAN-P2RY11)	NP_001035754.1:n.*638G>A
NM_001198690.1:c.*1522G>A (PPAN-P2RY11)	NP_001185619.1:n.*1522G>A
NM_002566.4:c.*638G>A (P2RY11)	NP_002557.2:n.*638G>A
NM_003755.3:c.947+103C>T (EIF3G)	NP_003746.2:n.947+103C>T
NM_003755.4:c.947+103C>T (EIF3G)	NP_003746.2:n.947+103C>T
NM_003755.5:c.947+103C>T (EIF3G) MANE Select	NP_003746.2:n.947+103C>T