Canonical Allele Identifier: CA347591263

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874537G>A (hg19) ; chr2:g.88575019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575019G>A , CM000664.2:g.88575019G>A	GRCh38
NC_000002.11:g.88874537G>A , CM000664.1:g.88874537G>A	GRCh37
NC_000002.10:g.88655652G>A	NCBI36
NG_016424.1:g.57558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2292C>T
ENST00000682103.1:c.5C>T
ENST00000682276.1:n.1909C>T
ENST00000682892.1:c.2011C>T	ENSP00000507214.1:p.Pro671Ser
ENST00000682952.1:n.2103C>T
ENST00000684455.1:c.1677C>T
ENST00000684642.1:c.1861C>T	ENSP00000507355.1:p.Pro621Ser
ENST00000684740.1:n.2642C>T
ENST00000303236.9:c.2464C>T MANE Select	ENSP00000307235.3:p.Pro822Ser
ENST00000652099.1:c.2658C>T
ENST00000652736.1:n.2340C>T
ENST00000303236.7:c.2464C>T	ENSP00000307235.3:p.Pro822Ser
ENST00000415570.1:c.2101C>T	ENSP00000412076.1:p.Pro701Ser
ENST00000419748.5:c.2011C>T	ENSP00000408325.1:p.Pro671Ser
ENST00000470706.1:n.107C>T
NM_001313915.1:c.2011C>T	NP_001300844.1:p.Pro671Ser
NM_004836.5:c.2464C>T	NP_004827.4:p.Pro822Ser
NM_004836.6:c.2464C>T	NP_004827.4:p.Pro822Ser
NR_110236.1:n.1156G>A
XM_005264649.3:c.1780C>T	XP_005264706.1:p.Pro594Ser
XM_017005376.2:c.1780C>T	XP_016860865.1:p.Pro594Ser
NM_004836.7:c.2464C>T MANE Select	NP_004827.4:p.Pro822Ser
NM_001313915.2:c.2011C>T	NP_001300844.1:p.Pro671Ser