Canonical Allele Identifier: CA347592145

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575214-C-T
• MyVariant Identifiers: chr2:g.88874732C>T (hg19) ; chr2:g.88575214C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575214C>T , CM000664.2:g.88575214C>T	GRCh38
NC_000002.11:g.88874732C>T , CM000664.1:g.88874732C>T	GRCh37
NC_000002.10:g.88655847C>T	NCBI36
NG_016424.1:g.57363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2097G>A
ENST00000682276.1:n.1714G>A
ENST00000682892.1:c.1816G>A	ENSP00000507214.1:p.Ala606Thr
ENST00000682952.1:n.1908G>A
ENST00000684455.1:c.1482G>A
ENST00000684642.1:c.1666G>A	ENSP00000507355.1:p.Ala556Thr
ENST00000684740.1:n.2447G>A
ENST00000303236.9:c.2269G>A MANE Select	ENSP00000307235.3:p.Ala757Thr
ENST00000652099.1:c.2463G>A
ENST00000652736.1:n.2145G>A
ENST00000303236.7:c.2269G>A	ENSP00000307235.3:p.Ala757Thr
ENST00000415570.1:c.1906G>A	ENSP00000412076.1:p.Ala636Thr
ENST00000419748.5:c.1816G>A	ENSP00000408325.1:p.Ala606Thr
ENST00000470706.1:n.49-137G>A
NM_001313915.1:c.1816G>A	NP_001300844.1:p.Ala606Thr
NM_004836.5:c.2269G>A	NP_004827.4:p.Ala757Thr
NM_004836.6:c.2269G>A	NP_004827.4:p.Ala757Thr
NR_110236.1:n.1351C>T
XM_005264649.3:c.1585G>A	XP_005264706.1:p.Ala529Thr
XM_017005376.2:c.1585G>A	XP_016860865.1:p.Ala529Thr
NM_004836.7:c.2269G>A MANE Select	NP_004827.4:p.Ala757Thr
NM_001313915.2:c.1816G>A	NP_001300844.1:p.Ala606Thr