Canonical Allele Identifier: CA427445143

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2844450
• ClinVar RCV Id: RCV003716834
• MyVariant Identifiers: chr2:g.88874634A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575116A>G , CM000664.2:g.88575116A>G	GRCh38
NC_000002.11:g.88874634A>G , CM000664.1:g.88874634A>G	GRCh37
NC_000002.10:g.88655749A>G	NCBI36
NG_016424.1:g.57461T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2195T>C
ENST00000682276.1:n.1812T>C
ENST00000682892.1:c.1914T>C	ENSP00000507214.1:p.Pro638=
ENST00000682952.1:n.2006T>C
ENST00000684455.1:c.1580T>C
ENST00000684642.1:c.1764T>C	ENSP00000507355.1:p.Pro588=
ENST00000684740.1:n.2545T>C
ENST00000303236.9:c.2367T>C MANE Select	ENSP00000307235.3:p.Pro789=
ENST00000652099.1:c.2561T>C
ENST00000652736.1:n.2243T>C
ENST00000303236.7:c.2367T>C	ENSP00000307235.3:p.Pro789=
ENST00000415570.1:c.2004T>C	ENSP00000412076.1:p.Pro668=
ENST00000419748.5:c.1914T>C	ENSP00000408325.1:p.Pro638=
ENST00000470706.1:n.49-39T>C
NM_001313915.1:c.1914T>C	NP_001300844.1:p.Pro638=
NM_004836.5:c.2367T>C	NP_004827.4:p.Pro789=
NM_004836.6:c.2367T>C	NP_004827.4:p.Pro789=
NR_110236.1:n.1253A>G
XM_005264649.3:c.1683T>C	XP_005264706.1:p.Pro561=
XM_017005376.2:c.1683T>C	XP_016860865.1:p.Pro561=
NM_004836.7:c.2367T>C MANE Select	NP_004827.4:p.Pro789=
NM_001313915.2:c.1914T>C	NP_001300844.1:p.Pro638=