Canonical Allele Identifier: CA347592026

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874707C>A (hg19) ; chr2:g.88575189C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575189C>A , CM000664.2:g.88575189C>A	GRCh38
NC_000002.11:g.88874707C>A , CM000664.1:g.88874707C>A	GRCh37
NC_000002.10:g.88655822C>A	NCBI36
NG_016424.1:g.57388G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2122G>T
ENST00000682276.1:n.1739G>T
ENST00000682892.1:c.1841G>T	ENSP00000507214.1:p.Cys614Phe
ENST00000682952.1:n.1933G>T
ENST00000684455.1:c.1507G>T
ENST00000684642.1:c.1691G>T	ENSP00000507355.1:p.Cys564Phe
ENST00000684740.1:n.2472G>T
ENST00000303236.9:c.2294G>T MANE Select	ENSP00000307235.3:p.Cys765Phe
ENST00000652099.1:c.2488G>T
ENST00000652736.1:n.2170G>T
ENST00000303236.7:c.2294G>T	ENSP00000307235.3:p.Cys765Phe
ENST00000415570.1:c.1931G>T	ENSP00000412076.1:p.Cys644Phe
ENST00000419748.5:c.1841G>T	ENSP00000408325.1:p.Cys614Phe
ENST00000470706.1:n.49-112G>T
NM_001313915.1:c.1841G>T	NP_001300844.1:p.Cys614Phe
NM_004836.5:c.2294G>T	NP_004827.4:p.Cys765Phe
NM_004836.6:c.2294G>T	NP_004827.4:p.Cys765Phe
NR_110236.1:n.1326C>A
XM_005264649.3:c.1610G>T	XP_005264706.1:p.Cys537Phe
XM_017005376.2:c.1610G>T	XP_016860865.1:p.Cys537Phe
NM_004836.7:c.2294G>T MANE Select	NP_004827.4:p.Cys765Phe
NM_001313915.2:c.1841G>T	NP_001300844.1:p.Cys614Phe