Canonical Allele Identifier: CA427445246

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874688C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575170C>A , CM000664.2:g.88575170C>A	GRCh38
NC_000002.11:g.88874688C>A , CM000664.1:g.88874688C>A	GRCh37
NC_000002.10:g.88655803C>A	NCBI36
NG_016424.1:g.57407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2141G>T
ENST00000682276.1:n.1758G>T
ENST00000682892.1:c.1860G>T	ENSP00000507214.1:p.Val620=
ENST00000682952.1:n.1952G>T
ENST00000684455.1:c.1526G>T
ENST00000684642.1:c.1710G>T	ENSP00000507355.1:p.Val570=
ENST00000684740.1:n.2491G>T
ENST00000303236.9:c.2313G>T MANE Select	ENSP00000307235.3:p.Val771=
ENST00000652099.1:c.2507G>T
ENST00000652736.1:n.2189G>T
ENST00000303236.7:c.2313G>T	ENSP00000307235.3:p.Val771=
ENST00000415570.1:c.1950G>T	ENSP00000412076.1:p.Val650=
ENST00000419748.5:c.1860G>T	ENSP00000408325.1:p.Val620=
ENST00000470706.1:n.49-93G>T
NM_001313915.1:c.1860G>T	NP_001300844.1:p.Val620=
NM_004836.5:c.2313G>T	NP_004827.4:p.Val771=
NM_004836.6:c.2313G>T	NP_004827.4:p.Val771=
NR_110236.1:n.1307C>A
XM_005264649.3:c.1629G>T	XP_005264706.1:p.Val543=
XM_017005376.2:c.1629G>T	XP_016860865.1:p.Val543=
NM_004836.7:c.2313G>T MANE Select	NP_004827.4:p.Val771=
NM_001313915.2:c.1860G>T	NP_001300844.1:p.Val620=