Canonical Allele Identifier: CA427174310

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88890096A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590578A>G , CM000664.2:g.88590578A>G	GRCh38
NC_000002.11:g.88890096A>G , CM000664.1:g.88890096A>G	GRCh37
NC_000002.10:g.88671211A>G	NCBI36
NG_016424.1:g.41999T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2221T>C
ENST00000682276.1:n.485T>C
ENST00000682892.1:c.577T>C	ENSP00000507214.1:p.Leu193=
ENST00000682952.1:n.669T>C
ENST00000684455.1:c.243T>C
ENST00000684642.1:c.427T>C	ENSP00000507355.1:p.Leu143=
ENST00000303236.9:c.1030T>C MANE Select	ENSP00000307235.3:p.Leu344=
ENST00000652099.1:c.1224T>C
ENST00000652736.1:n.906T>C
ENST00000303236.7:c.1030T>C	ENSP00000307235.3:p.Leu344=
ENST00000415570.1:c.667T>C	ENSP00000412076.1:p.Leu223=
ENST00000419748.5:c.577T>C	ENSP00000408325.1:p.Leu193=
NM_001313915.1:c.577T>C	NP_001300844.1:p.Leu193=
NM_004836.5:c.1030T>C	NP_004827.4:p.Leu344=
NM_004836.6:c.1030T>C	NP_004827.4:p.Leu344=
XM_005264649.3:c.346T>C	XP_005264706.1:p.Leu116=
XR_939749.1:n.1239T>C
XM_017005376.2:c.346T>C	XP_016860865.1:p.Leu116=
NM_004836.7:c.1030T>C MANE Select	NP_004827.4:p.Leu344=
NM_001313915.2:c.577T>C	NP_001300844.1:p.Leu193=