Canonical Allele Identifier: CA617218440

Gene: EIF2AK4

Linked Data

• dbSNP Id: rs1226117157
• gnomAD v2: 15-40270250-C-G
• gnomAD v4: 15-39978049-C-G
• MyVariant Identifiers: chr15:g.40270250C>G (hg19) ; chr15:g.39978049C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.39978049C>G , CM000677.2:g.39978049C>G	GRCh38
NC_000015.9:g.40270250C>G , CM000677.1:g.40270250C>G	GRCh37
NC_000015.8:g.38057542C>G	NCBI36
NG_034053.1:g.48926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263791.10:c.2250-29C>G MANE Select	ENSP00000263791.5:n.2250-29C>G
ENST00000263791.9:c.2250-29C>G	ENSP00000263791.5:n.2250-29C>G
ENST00000560855.5:c.1666-29C>G
ENST00000624709.1:n.1071C>G
NM_001013703.3:c.2250-29C>G	NP_001013725.2:n.2250-29C>G
XM_005254392.1:c.2250-29C>G	XP_005254449.1:n.2250-29C>G
XM_011521599.1:c.2250-29C>G	XP_011519901.1:n.2250-29C>G
XM_011521600.1:c.2250-29C>G	XP_011519902.1:n.2250-29C>G
XM_005254392.3:c.2250-29C>G	XP_005254449.1:n.2250-29C>G
XM_011521599.2:c.2250-29C>G	XP_011519901.1:n.2250-29C>G
XM_011521600.3:c.2250-29C>G	XP_011519902.1:n.2250-29C>G
XM_017022219.2:c.2250-29C>G	XP_016877708.1:n.2250-29C>G
NM_001013703.4:c.2250-29C>G MANE Select	NP_001013725.2:n.2250-29C>G