Canonical Allele Identifier: CA347595642

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1355645
• ClinVar RCV Id: RCV001867021
• dbSNP Id: rs767330545
• gnomAD v4: 2-88590575-G-C
• MyVariant Identifiers: chr2:g.88890093G>C (hg19) ; chr2:g.88590575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590575G>C , CM000664.2:g.88590575G>C	GRCh38
NC_000002.11:g.88890093G>C , CM000664.1:g.88890093G>C	GRCh37
NC_000002.10:g.88671208G>C	NCBI36
NG_016424.1:g.42002C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681996.1:n.2224C>G
ENST00000682276.1:n.488C>G
ENST00000682892.1:c.580C>G	ENSP00000507214.1:p.Leu194Val
ENST00000682952.1:n.672C>G
ENST00000684455.1:c.246C>G
ENST00000684642.1:c.430C>G	ENSP00000507355.1:p.Leu144Val
ENST00000303236.9:c.1033C>G MANE Select	ENSP00000307235.3:p.Leu345Val
ENST00000652099.1:c.1227C>G
ENST00000652736.1:n.909C>G
ENST00000303236.7:c.1033C>G	ENSP00000307235.3:p.Leu345Val
ENST00000415570.1:c.670C>G	ENSP00000412076.1:p.Leu224Val
ENST00000419748.5:c.580C>G	ENSP00000408325.1:p.Leu194Val
NM_001313915.1:c.580C>G	NP_001300844.1:p.Leu194Val
NM_004836.5:c.1033C>G	NP_004827.4:p.Leu345Val
NM_004836.6:c.1033C>G	NP_004827.4:p.Leu345Val
XM_005264649.3:c.349C>G	XP_005264706.1:p.Leu117Val
XR_939749.1:n.1242C>G
XM_017005376.2:c.349C>G	XP_016860865.1:p.Leu117Val
NM_004836.7:c.1033C>G MANE Select	NP_004827.4:p.Leu345Val
NM_001313915.2:c.580C>G	NP_001300844.1:p.Leu194Val