Canonical Allele Identifier: CA427445521

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2729197
• ClinVar RCV Id: RCV003559734
• MyVariant Identifiers: chr2:g.88874577A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575059A>G , CM000664.2:g.88575059A>G	GRCh38
NC_000002.11:g.88874577A>G , CM000664.1:g.88874577A>G	GRCh37
NC_000002.10:g.88655692A>G	NCBI36
NG_016424.1:g.57518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2252T>C
ENST00000682276.1:n.1869T>C
ENST00000682892.1:c.1971T>C	ENSP00000507214.1:p.Phe657=
ENST00000682952.1:n.2063T>C
ENST00000684455.1:c.1637T>C
ENST00000684642.1:c.1821T>C	ENSP00000507355.1:p.Phe607=
ENST00000684740.1:n.2602T>C
ENST00000303236.9:c.2424T>C MANE Select	ENSP00000307235.3:p.Phe808=
ENST00000652099.1:c.2618T>C
ENST00000652736.1:n.2300T>C
ENST00000303236.7:c.2424T>C	ENSP00000307235.3:p.Phe808=
ENST00000415570.1:c.2061T>C	ENSP00000412076.1:p.Phe687=
ENST00000419748.5:c.1971T>C	ENSP00000408325.1:p.Phe657=
ENST00000470706.1:n.67T>C
NM_001313915.1:c.1971T>C	NP_001300844.1:p.Phe657=
NM_004836.5:c.2424T>C	NP_004827.4:p.Phe808=
NM_004836.6:c.2424T>C	NP_004827.4:p.Phe808=
NR_110236.1:n.1196A>G
XM_005264649.3:c.1740T>C	XP_005264706.1:p.Phe580=
XM_017005376.2:c.1740T>C	XP_016860865.1:p.Phe580=
NM_004836.7:c.2424T>C MANE Select	NP_004827.4:p.Phe808=
NM_001313915.2:c.1971T>C	NP_001300844.1:p.Phe657=