Canonical Allele Identifier: CA347592817

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874878T>A (hg19) ; chr2:g.88575360T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575360T>A , CM000664.2:g.88575360T>A	GRCh38
NC_000002.11:g.88874878T>A , CM000664.1:g.88874878T>A	GRCh37
NC_000002.10:g.88655993T>A	NCBI36
NG_016424.1:g.57217A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1951A>T
ENST00000682276.1:n.1568A>T
ENST00000682892.1:c.1670A>T	ENSP00000507214.1:p.His557Leu
ENST00000682952.1:n.1762A>T
ENST00000684455.1:c.1336A>T
ENST00000684642.1:c.1520A>T	ENSP00000507355.1:p.His507Leu
ENST00000684740.1:n.2301A>T
ENST00000303236.9:c.2123A>T MANE Select	ENSP00000307235.3:p.His708Leu
ENST00000652099.1:c.2317A>T
ENST00000652736.1:n.1999A>T
ENST00000303236.7:c.2123A>T	ENSP00000307235.3:p.His708Leu
ENST00000415570.1:c.1760A>T	ENSP00000412076.1:p.His587Leu
ENST00000419748.5:c.1670A>T	ENSP00000408325.1:p.His557Leu
ENST00000470706.1:n.48+1A>T
NM_001313915.1:c.1670A>T	NP_001300844.1:p.His557Leu
NM_004836.5:c.2123A>T	NP_004827.4:p.His708Leu
NM_004836.6:c.2123A>T	NP_004827.4:p.His708Leu
NR_110236.1:n.1497T>A
XM_005264649.3:c.1439A>T	XP_005264706.1:p.His480Leu
XR_939749.1:n.2402A>T
XM_017005376.2:c.1439A>T	XP_016860865.1:p.His480Leu
NM_004836.7:c.2123A>T MANE Select	NP_004827.4:p.His708Leu
NM_001313915.2:c.1670A>T	NP_001300844.1:p.His557Leu