Canonical Allele Identifier: CA1754448

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1367166
• ClinVar RCV Id: RCV001932420
• dbSNP Id: rs551274166
• ExAC: 2:88874536 G / A
• gnomAD v2: 2-88874536-G-A
• gnomAD v3: 2-88575018-G-A
• gnomAD v4: 2-88575018-G-A
• MyVariant Identifiers: chr2:g.88874536G>A (hg19) ; chr2:g.88575018G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2293C>T
ENST00000682103.1:c.6C>T
ENST00000682276.1:n.1910C>T
ENST00000682892.1:c.2012C>T	ENSP00000507214.1:p.Pro671Leu
ENST00000682952.1:n.2104C>T
ENST00000684455.1:c.1678C>T
ENST00000684642.1:c.1862C>T	ENSP00000507355.1:p.Pro621Leu
ENST00000684740.1:n.2643C>T
ENST00000303236.9:c.2465C>T MANE Select	ENSP00000307235.3:p.Pro822Leu
ENST00000652099.1:c.2659C>T
ENST00000652736.1:n.2341C>T
ENST00000303236.7:c.2465C>T	ENSP00000307235.3:p.Pro822Leu
ENST00000415570.1:c.2102C>T	ENSP00000412076.1:p.Pro701Leu
ENST00000419748.5:c.2012C>T	ENSP00000408325.1:p.Pro671Leu
ENST00000470706.1:n.108C>T
NM_001313915.1:c.2012C>T	NP_001300844.1:p.Pro671Leu
NM_004836.5:c.2465C>T	NP_004827.4:p.Pro822Leu
NM_004836.6:c.2465C>T	NP_004827.4:p.Pro822Leu
NR_110236.1:n.1155G>A
XM_005264649.3:c.1781C>T	XP_005264706.1:p.Pro594Leu
XM_017005376.2:c.1781C>T	XP_016860865.1:p.Pro594Leu
NM_004836.7:c.2465C>T MANE Select	NP_004827.4:p.Pro822Leu
NM_001313915.2:c.2012C>T	NP_001300844.1:p.Pro671Leu