Canonical Allele Identifier: CA347592359

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1558648202
• gnomAD v4: 2-88575256-A-G
• MyVariant Identifiers: chr2:g.88874774A>G (hg19) ; chr2:g.88575256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575256A>G , CM000664.2:g.88575256A>G	GRCh38
NC_000002.11:g.88874774A>G , CM000664.1:g.88874774A>G	GRCh37
NC_000002.10:g.88655889A>G	NCBI36
NG_016424.1:g.57321T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2055T>C
ENST00000682276.1:n.1672T>C
ENST00000682892.1:c.1774T>C	ENSP00000507214.1:p.Phe592Leu
ENST00000682952.1:n.1866T>C
ENST00000684455.1:c.1440T>C
ENST00000684642.1:c.1624T>C	ENSP00000507355.1:p.Phe542Leu
ENST00000684740.1:n.2405T>C
ENST00000303236.9:c.2227T>C MANE Select	ENSP00000307235.3:p.Phe743Leu
ENST00000652099.1:c.2421T>C
ENST00000652736.1:n.2103T>C
ENST00000303236.7:c.2227T>C	ENSP00000307235.3:p.Phe743Leu
ENST00000415570.1:c.1864T>C	ENSP00000412076.1:p.Phe622Leu
ENST00000419748.5:c.1774T>C	ENSP00000408325.1:p.Phe592Leu
ENST00000470706.1:n.48+105T>C
NM_001313915.1:c.1774T>C	NP_001300844.1:p.Phe592Leu
NM_004836.5:c.2227T>C	NP_004827.4:p.Phe743Leu
NM_004836.6:c.2227T>C	NP_004827.4:p.Phe743Leu
NR_110236.1:n.1393A>G
XM_005264649.3:c.1543T>C	XP_005264706.1:p.Phe515Leu
XM_017005376.2:c.1543T>C	XP_016860865.1:p.Phe515Leu
NM_004836.7:c.2227T>C MANE Select	NP_004827.4:p.Phe743Leu
NM_001313915.2:c.1774T>C	NP_001300844.1:p.Phe592Leu