Canonical Allele Identifier: CA347591607

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575092-C-G
• MyVariant Identifiers: chr2:g.88874610C>G (hg19) ; chr2:g.88575092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575092C>G , CM000664.2:g.88575092C>G	GRCh38
NC_000002.11:g.88874610C>G , CM000664.1:g.88874610C>G	GRCh37
NC_000002.10:g.88655725C>G	NCBI36
NG_016424.1:g.57485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2219G>C
ENST00000682276.1:n.1836G>C
ENST00000682892.1:c.1938G>C	ENSP00000507214.1:p.Arg646Ser
ENST00000682952.1:n.2030G>C
ENST00000684455.1:c.1604G>C
ENST00000684642.1:c.1788G>C	ENSP00000507355.1:p.Arg596Ser
ENST00000684740.1:n.2569G>C
ENST00000303236.9:c.2391G>C MANE Select	ENSP00000307235.3:p.Arg797Ser
ENST00000652099.1:c.2585G>C
ENST00000652736.1:n.2267G>C
ENST00000303236.7:c.2391G>C	ENSP00000307235.3:p.Arg797Ser
ENST00000415570.1:c.2028G>C	ENSP00000412076.1:p.Arg676Ser
ENST00000419748.5:c.1938G>C	ENSP00000408325.1:p.Arg646Ser
ENST00000470706.1:n.49-15G>C
NM_001313915.1:c.1938G>C	NP_001300844.1:p.Arg646Ser
NM_004836.5:c.2391G>C	NP_004827.4:p.Arg797Ser
NM_004836.6:c.2391G>C	NP_004827.4:p.Arg797Ser
NR_110236.1:n.1229C>G
XM_005264649.3:c.1707G>C	XP_005264706.1:p.Arg569Ser
XM_017005376.2:c.1707G>C	XP_016860865.1:p.Arg569Ser
NM_004836.7:c.2391G>C MANE Select	NP_004827.4:p.Arg797Ser
NM_001313915.2:c.1938G>C	NP_001300844.1:p.Arg646Ser