Canonical Allele Identifier: CA347592393

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874783G>C (hg19) ; chr2:g.88575265G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575265G>C , CM000664.2:g.88575265G>C	GRCh38
NC_000002.11:g.88874783G>C , CM000664.1:g.88874783G>C	GRCh37
NC_000002.10:g.88655898G>C	NCBI36
NG_016424.1:g.57312C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2046C>G
ENST00000682276.1:n.1663C>G
ENST00000682892.1:c.1765C>G	ENSP00000507214.1:p.Pro589Ala
ENST00000682952.1:n.1857C>G
ENST00000684455.1:c.1431C>G
ENST00000684642.1:c.1615C>G	ENSP00000507355.1:p.Pro539Ala
ENST00000684740.1:n.2396C>G
ENST00000303236.9:c.2218C>G MANE Select	ENSP00000307235.3:p.Pro740Ala
ENST00000652099.1:c.2412C>G
ENST00000652736.1:n.2094C>G
ENST00000303236.7:c.2218C>G	ENSP00000307235.3:p.Pro740Ala
ENST00000415570.1:c.1855C>G	ENSP00000412076.1:p.Pro619Ala
ENST00000419748.5:c.1765C>G	ENSP00000408325.1:p.Pro589Ala
ENST00000470706.1:n.48+96C>G
NM_001313915.1:c.1765C>G	NP_001300844.1:p.Pro589Ala
NM_004836.5:c.2218C>G	NP_004827.4:p.Pro740Ala
NM_004836.6:c.2218C>G	NP_004827.4:p.Pro740Ala
NR_110236.1:n.1402G>C
XM_005264649.3:c.1534C>G	XP_005264706.1:p.Pro512Ala
XR_939749.1:n.2497C>G
XM_017005376.2:c.1534C>G	XP_016860865.1:p.Pro512Ala
NM_004836.7:c.2218C>G MANE Select	NP_004827.4:p.Pro740Ala
NM_001313915.2:c.1765C>G	NP_001300844.1:p.Pro589Ala