Canonical Allele Identifier: CA347591260

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs551274166
• gnomAD v2: 2-88874536-G-T
• MyVariant Identifiers: chr2:g.88874536G>T (hg19) ; chr2:g.88575018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575018G>T , CM000664.2:g.88575018G>T	GRCh38
NC_000002.11:g.88874536G>T , CM000664.1:g.88874536G>T	GRCh37
NC_000002.10:g.88655651G>T	NCBI36
NG_016424.1:g.57559C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2293C>A
ENST00000682103.1:c.6C>A
ENST00000682276.1:n.1910C>A
ENST00000682892.1:c.2012C>A	ENSP00000507214.1:p.Pro671Gln
ENST00000682952.1:n.2104C>A
ENST00000684455.1:c.1678C>A
ENST00000684642.1:c.1862C>A	ENSP00000507355.1:p.Pro621Gln
ENST00000684740.1:n.2643C>A
ENST00000303236.9:c.2465C>A MANE Select	ENSP00000307235.3:p.Pro822Gln
ENST00000652099.1:c.2659C>A
ENST00000652736.1:n.2341C>A
ENST00000303236.7:c.2465C>A	ENSP00000307235.3:p.Pro822Gln
ENST00000415570.1:c.2102C>A	ENSP00000412076.1:p.Pro701Gln
ENST00000419748.5:c.2012C>A	ENSP00000408325.1:p.Pro671Gln
ENST00000470706.1:n.108C>A
NM_001313915.1:c.2012C>A	NP_001300844.1:p.Pro671Gln
NM_004836.5:c.2465C>A	NP_004827.4:p.Pro822Gln
NM_004836.6:c.2465C>A	NP_004827.4:p.Pro822Gln
NR_110236.1:n.1155G>T
XM_005264649.3:c.1781C>A	XP_005264706.1:p.Pro594Gln
XM_017005376.2:c.1781C>A	XP_016860865.1:p.Pro594Gln
NM_004836.7:c.2465C>A MANE Select	NP_004827.4:p.Pro822Gln
NM_001313915.2:c.2012C>A	NP_001300844.1:p.Pro671Gln