Canonical Allele Identifier: CA391685578

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1462495433
• gnomAD v2: 15-40270283-G-A
• gnomAD v4: 15-39978082-G-A
• MyVariant Identifiers: chr15:g.40270283G>A (hg19) ; chr15:g.39978082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978082G>A , CM000677.2:g.39978082G>A	GRCh38
NC_000015.9:g.40270283G>A , CM000677.1:g.40270283G>A	GRCh37
NC_000015.8:g.38057575G>A	NCBI36
NG_034053.1:g.48959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2254G>A MANE Select	ENSP00000263791.5:p.Ala752Thr
ENST00000263791.9:c.2254G>A	ENSP00000263791.5:p.Ala752Thr
ENST00000560855.5:c.1670G>A
ENST00000624709.1:n.1104G>A
NM_001013703.3:c.2254G>A	NP_001013725.2:p.Ala752Thr
XM_005254392.1:c.2254G>A	XP_005254449.1:p.Ala752Thr
XM_011521599.1:c.2254G>A	XP_011519901.1:p.Ala752Thr
XM_011521600.1:c.2254G>A	XP_011519902.1:p.Ala752Thr
XM_005254392.3:c.2254G>A	XP_005254449.1:p.Ala752Thr
XM_011521599.2:c.2254G>A	XP_011519901.1:p.Ala752Thr
XM_011521600.3:c.2254G>A	XP_011519902.1:p.Ala752Thr
XM_017022219.2:c.2254G>A	XP_016877708.1:p.Ala752Thr
NM_001013703.4:c.2254G>A MANE Select	NP_001013725.2:p.Ala752Thr