Canonical Allele Identifier: CA347595428

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890000C>A (hg19) ; chr2:g.88590482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590482C>A , CM000664.2:g.88590482C>A	GRCh38
NC_000002.11:g.88890000C>A , CM000664.1:g.88890000C>A	GRCh37
NC_000002.10:g.88671115C>A	NCBI36
NG_016424.1:g.42095G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2317G>T
ENST00000682276.1:n.581G>T
ENST00000682892.1:c.673G>T	ENSP00000507214.1:p.Glu225Ter
ENST00000682952.1:n.765G>T
ENST00000684455.1:c.339G>T
ENST00000684642.1:c.523G>T	ENSP00000507355.1:p.Glu175Ter
ENST00000303236.9:c.1126G>T MANE Select	ENSP00000307235.3:p.Glu376Ter
ENST00000652099.1:c.1320G>T
ENST00000652736.1:n.1002G>T
ENST00000303236.7:c.1126G>T	ENSP00000307235.3:p.Glu376Ter
ENST00000415570.1:c.763G>T	ENSP00000412076.1:p.Glu255Ter
ENST00000419748.5:c.673G>T	ENSP00000408325.1:p.Glu225Ter
NM_001313915.1:c.673G>T	NP_001300844.1:p.Glu225Ter
NM_004836.5:c.1126G>T	NP_004827.4:p.Glu376Ter
NM_004836.6:c.1126G>T	NP_004827.4:p.Glu376Ter
XM_005264649.3:c.442G>T	XP_005264706.1:p.Glu148Ter
XR_939749.1:n.1335G>T
XM_017005376.2:c.442G>T	XP_016860865.1:p.Glu148Ter
NM_004836.7:c.1126G>T MANE Select	NP_004827.4:p.Glu376Ter
NM_001313915.2:c.673G>T	NP_001300844.1:p.Glu225Ter