Canonical Allele Identifier: CA1754449

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs551274166
• ExAC: 2:88874536 G / C
• gnomAD v2: 2-88874536-G-C
• gnomAD v3: 2-88575018-G-C
• gnomAD v4: 2-88575018-G-C
• MyVariant Identifiers: chr2:g.88874536G>C (hg19) ; chr2:g.88575018G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2293C>G
ENST00000682103.1:c.6C>G
ENST00000682276.1:n.1910C>G
ENST00000682892.1:c.2012C>G	ENSP00000507214.1:p.Pro671Arg
ENST00000682952.1:n.2104C>G
ENST00000684455.1:c.1678C>G
ENST00000684642.1:c.1862C>G	ENSP00000507355.1:p.Pro621Arg
ENST00000684740.1:n.2643C>G
ENST00000303236.9:c.2465C>G MANE Select	ENSP00000307235.3:p.Pro822Arg
ENST00000652099.1:c.2659C>G
ENST00000652736.1:n.2341C>G
ENST00000303236.7:c.2465C>G	ENSP00000307235.3:p.Pro822Arg
ENST00000415570.1:c.2102C>G	ENSP00000412076.1:p.Pro701Arg
ENST00000419748.5:c.2012C>G	ENSP00000408325.1:p.Pro671Arg
ENST00000470706.1:n.108C>G
NM_001313915.1:c.2012C>G	NP_001300844.1:p.Pro671Arg
NM_004836.5:c.2465C>G	NP_004827.4:p.Pro822Arg
NM_004836.6:c.2465C>G	NP_004827.4:p.Pro822Arg
NR_110236.1:n.1155G>C
XM_005264649.3:c.1781C>G	XP_005264706.1:p.Pro594Arg
XM_017005376.2:c.1781C>G	XP_016860865.1:p.Pro594Arg
NM_004836.7:c.2465C>G MANE Select	NP_004827.4:p.Pro822Arg
NM_001313915.2:c.2012C>G	NP_001300844.1:p.Pro671Arg