Canonical Allele Identifier: CA347591627

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs764803957
• gnomAD v2: 2-88874615-C-A
• MyVariant Identifiers: chr2:g.88874615C>A (hg19) ; chr2:g.88575097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575097C>A , CM000664.2:g.88575097C>A	GRCh38
NC_000002.11:g.88874615C>A , CM000664.1:g.88874615C>A	GRCh37
NC_000002.10:g.88655730C>A	NCBI36
NG_016424.1:g.57480G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2214G>T
ENST00000682276.1:n.1831G>T
ENST00000682892.1:c.1933G>T	ENSP00000507214.1:p.Val645Leu
ENST00000682952.1:n.2025G>T
ENST00000684455.1:c.1599G>T
ENST00000684642.1:c.1783G>T	ENSP00000507355.1:p.Val595Leu
ENST00000684740.1:n.2564G>T
ENST00000303236.9:c.2386G>T MANE Select	ENSP00000307235.3:p.Val796Leu
ENST00000652099.1:c.2580G>T
ENST00000652736.1:n.2262G>T
ENST00000303236.7:c.2386G>T	ENSP00000307235.3:p.Val796Leu
ENST00000415570.1:c.2023G>T	ENSP00000412076.1:p.Val675Leu
ENST00000419748.5:c.1933G>T	ENSP00000408325.1:p.Val645Leu
ENST00000470706.1:n.49-20G>T
NM_001313915.1:c.1933G>T	NP_001300844.1:p.Val645Leu
NM_004836.5:c.2386G>T	NP_004827.4:p.Val796Leu
NM_004836.6:c.2386G>T	NP_004827.4:p.Val796Leu
NR_110236.1:n.1234C>A
XM_005264649.3:c.1702G>T	XP_005264706.1:p.Val568Leu
XM_017005376.2:c.1702G>T	XP_016860865.1:p.Val568Leu
NM_004836.7:c.2386G>T MANE Select	NP_004827.4:p.Val796Leu
NM_001313915.2:c.1933G>T	NP_001300844.1:p.Val645Leu