Canonical Allele Identifier: CA617218445

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1197655027
• gnomAD v2: 15-40270264-G-A
• gnomAD v4: 15-39978063-G-A
• MyVariant Identifiers: chr15:g.40270264G>A (hg19) ; chr15:g.39978063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978063G>A , CM000677.2:g.39978063G>A	GRCh38
NC_000015.9:g.40270264G>A , CM000677.1:g.40270264G>A	GRCh37
NC_000015.8:g.38057556G>A	NCBI36
NG_034053.1:g.48940G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263791.10:c.2250-15G>A MANE Select	ENSP00000263791.5:n.2250-15G>A
ENST00000263791.9:c.2250-15G>A	ENSP00000263791.5:n.2250-15G>A
ENST00000560855.5:c.1666-15G>A
ENST00000624709.1:n.1085G>A
NM_001013703.3:c.2250-15G>A	NP_001013725.2:n.2250-15G>A
XM_005254392.1:c.2250-15G>A	XP_005254449.1:n.2250-15G>A
XM_011521599.1:c.2250-15G>A	XP_011519901.1:n.2250-15G>A
XM_011521600.1:c.2250-15G>A	XP_011519902.1:n.2250-15G>A
XM_005254392.3:c.2250-15G>A	XP_005254449.1:n.2250-15G>A
XM_011521599.2:c.2250-15G>A	XP_011519901.1:n.2250-15G>A
XM_011521600.3:c.2250-15G>A	XP_011519902.1:n.2250-15G>A
XM_017022219.2:c.2250-15G>A	XP_016877708.1:n.2250-15G>A
NM_001013703.4:c.2250-15G>A MANE Select	NP_001013725.2:n.2250-15G>A