Canonical Allele Identifier: CA347595644

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2324214
• ClinVar RCV Id: RCV002934419
• gnomAD v4: 2-88590576-T-G
• MyVariant Identifiers: chr2:g.88890094T>G (hg19) ; chr2:g.88590576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590576T>G , CM000664.2:g.88590576T>G	GRCh38
NC_000002.11:g.88890094T>G , CM000664.1:g.88890094T>G	GRCh37
NC_000002.10:g.88671209T>G	NCBI36
NG_016424.1:g.42001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2223A>C
ENST00000682276.1:n.487A>C
ENST00000682892.1:c.579A>C	ENSP00000507214.1:p.Leu193Phe
ENST00000682952.1:n.671A>C
ENST00000684455.1:c.245A>C
ENST00000684642.1:c.429A>C	ENSP00000507355.1:p.Leu143Phe
ENST00000303236.9:c.1032A>C MANE Select	ENSP00000307235.3:p.Leu344Phe
ENST00000652099.1:c.1226A>C
ENST00000652736.1:n.908A>C
ENST00000303236.7:c.1032A>C	ENSP00000307235.3:p.Leu344Phe
ENST00000415570.1:c.669A>C	ENSP00000412076.1:p.Leu223Phe
ENST00000419748.5:c.579A>C	ENSP00000408325.1:p.Leu193Phe
NM_001313915.1:c.579A>C	NP_001300844.1:p.Leu193Phe
NM_004836.5:c.1032A>C	NP_004827.4:p.Leu344Phe
NM_004836.6:c.1032A>C	NP_004827.4:p.Leu344Phe
XM_005264649.3:c.348A>C	XP_005264706.1:p.Leu116Phe
XR_939749.1:n.1241A>C
XM_017005376.2:c.348A>C	XP_016860865.1:p.Leu116Phe
NM_004836.7:c.1032A>C MANE Select	NP_004827.4:p.Leu344Phe
NM_001313915.2:c.579A>C	NP_001300844.1:p.Leu193Phe