Canonical Allele Identifier: CA347592319

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575246-A-C
• MyVariant Identifiers: chr2:g.88874764A>C (hg19) ; chr2:g.88575246A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575246A>C , CM000664.2:g.88575246A>C	GRCh38
NC_000002.11:g.88874764A>C , CM000664.1:g.88874764A>C	GRCh37
NC_000002.10:g.88655879A>C	NCBI36
NG_016424.1:g.57331T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2065T>G
ENST00000682276.1:n.1682T>G
ENST00000682892.1:c.1784T>G	ENSP00000507214.1:p.Met595Arg
ENST00000682952.1:n.1876T>G
ENST00000684455.1:c.1450T>G
ENST00000684642.1:c.1634T>G	ENSP00000507355.1:p.Met545Arg
ENST00000684740.1:n.2415T>G
ENST00000303236.9:c.2237T>G MANE Select	ENSP00000307235.3:p.Met746Arg
ENST00000652099.1:c.2431T>G
ENST00000652736.1:n.2113T>G
ENST00000303236.7:c.2237T>G	ENSP00000307235.3:p.Met746Arg
ENST00000415570.1:c.1874T>G	ENSP00000412076.1:p.Met625Arg
ENST00000419748.5:c.1784T>G	ENSP00000408325.1:p.Met595Arg
ENST00000470706.1:n.48+115T>G
NM_001313915.1:c.1784T>G	NP_001300844.1:p.Met595Arg
NM_004836.5:c.2237T>G	NP_004827.4:p.Met746Arg
NM_004836.6:c.2237T>G	NP_004827.4:p.Met746Arg
NR_110236.1:n.1383A>C
XM_005264649.3:c.1553T>G	XP_005264706.1:p.Met518Arg
XM_017005376.2:c.1553T>G	XP_016860865.1:p.Met518Arg
NM_004836.7:c.2237T>G MANE Select	NP_004827.4:p.Met746Arg
NM_001313915.2:c.1784T>G	NP_001300844.1:p.Met595Arg