Canonical Allele Identifier: CA347592954

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874920G>A (hg19) ; chr2:g.88575402G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575402G>A , CM000664.2:g.88575402G>A	GRCh38
NC_000002.11:g.88874920G>A , CM000664.1:g.88874920G>A	GRCh37
NC_000002.10:g.88656035G>A	NCBI36
NG_016424.1:g.57175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1909C>T
ENST00000682276.1:n.1526C>T
ENST00000682892.1:c.1628C>T	ENSP00000507214.1:p.Ser543Leu
ENST00000682952.1:n.1720C>T
ENST00000684455.1:c.1294C>T
ENST00000684642.1:c.1478C>T	ENSP00000507355.1:p.Ser493Leu
ENST00000684740.1:n.2259C>T
ENST00000303236.9:c.2081C>T MANE Select	ENSP00000307235.3:p.Ser694Leu
ENST00000652099.1:c.2275C>T
ENST00000652736.1:n.1957C>T
ENST00000303236.7:c.2081C>T	ENSP00000307235.3:p.Ser694Leu
ENST00000415570.1:c.1718C>T	ENSP00000412076.1:p.Ser573Leu
ENST00000419748.5:c.1628C>T	ENSP00000408325.1:p.Ser543Leu
ENST00000470706.1:n.7C>T
ENST00000478003.1:n.647C>T
NM_001313915.1:c.1628C>T	NP_001300844.1:p.Ser543Leu
NM_004836.5:c.2081C>T	NP_004827.4:p.Ser694Leu
NM_004836.6:c.2081C>T	NP_004827.4:p.Ser694Leu
NR_110236.1:n.1539G>A
XM_005264649.3:c.1397C>T	XP_005264706.1:p.Ser466Leu
XR_939749.1:n.2360C>T
XM_017005376.2:c.1397C>T	XP_016860865.1:p.Ser466Leu
NM_004836.7:c.2081C>T MANE Select	NP_004827.4:p.Ser694Leu
NM_001313915.2:c.1628C>T	NP_001300844.1:p.Ser543Leu