Canonical Allele Identifier: CA347592935

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874911A>G (hg19) ; chr2:g.88575393A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575393A>G , CM000664.2:g.88575393A>G	GRCh38
NC_000002.11:g.88874911A>G , CM000664.1:g.88874911A>G	GRCh37
NC_000002.10:g.88656026A>G	NCBI36
NG_016424.1:g.57184T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1918T>C
ENST00000682276.1:n.1535T>C
ENST00000682892.1:c.1637T>C	ENSP00000507214.1:p.Ile546Thr
ENST00000682952.1:n.1729T>C
ENST00000684455.1:c.1303T>C
ENST00000684642.1:c.1487T>C	ENSP00000507355.1:p.Ile496Thr
ENST00000684740.1:n.2268T>C
ENST00000303236.9:c.2090T>C MANE Select	ENSP00000307235.3:p.Ile697Thr
ENST00000652099.1:c.2284T>C
ENST00000652736.1:n.1966T>C
ENST00000303236.7:c.2090T>C	ENSP00000307235.3:p.Ile697Thr
ENST00000415570.1:c.1727T>C	ENSP00000412076.1:p.Ile576Thr
ENST00000419748.5:c.1637T>C	ENSP00000408325.1:p.Ile546Thr
ENST00000470706.1:n.16T>C
ENST00000478003.1:n.656T>C
NM_001313915.1:c.1637T>C	NP_001300844.1:p.Ile546Thr
NM_004836.5:c.2090T>C	NP_004827.4:p.Ile697Thr
NM_004836.6:c.2090T>C	NP_004827.4:p.Ile697Thr
NR_110236.1:n.1530A>G
XM_005264649.3:c.1406T>C	XP_005264706.1:p.Ile469Thr
XR_939749.1:n.2369T>C
XM_017005376.2:c.1406T>C	XP_016860865.1:p.Ile469Thr
NM_004836.7:c.2090T>C MANE Select	NP_004827.4:p.Ile697Thr
NM_001313915.2:c.1637T>C	NP_001300844.1:p.Ile546Thr