Canonical Allele Identifier: CA347592974

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575412-C-T
• COSMIC: COSM2823654 ; COSM2823655
• MyVariant Identifiers: chr2:g.88874930C>T (hg19) ; chr2:g.88575412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575412C>T , CM000664.2:g.88575412C>T	GRCh38
NC_000002.11:g.88874930C>T , CM000664.1:g.88874930C>T	GRCh37
NC_000002.10:g.88656045C>T	NCBI36
NG_016424.1:g.57165G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1899G>A
ENST00000682276.1:n.1516G>A
ENST00000682892.1:c.1618G>A	ENSP00000507214.1:p.Asp540Asn
ENST00000682952.1:n.1710G>A
ENST00000684455.1:c.1284G>A
ENST00000684642.1:c.1468G>A	ENSP00000507355.1:p.Asp490Asn
ENST00000684740.1:n.2249G>A
ENST00000303236.9:c.2071G>A MANE Select	ENSP00000307235.3:p.Asp691Asn
ENST00000652099.1:c.2265G>A
ENST00000652736.1:n.1947G>A
ENST00000303236.7:c.2071G>A	ENSP00000307235.3:p.Asp691Asn
ENST00000415570.1:c.1708G>A	ENSP00000412076.1:p.Asp570Asn
ENST00000419748.5:c.1618G>A	ENSP00000408325.1:p.Asp540Asn
ENST00000478003.1:n.637G>A
NM_001313915.1:c.1618G>A	NP_001300844.1:p.Asp540Asn
NM_004836.5:c.2071G>A	NP_004827.4:p.Asp691Asn
NM_004836.6:c.2071G>A	NP_004827.4:p.Asp691Asn
NR_110236.1:n.1549C>T
XM_005264649.3:c.1387G>A	XP_005264706.1:p.Asp463Asn
XR_939749.1:n.2350G>A
XM_017005376.2:c.1387G>A	XP_016860865.1:p.Asp463Asn
NM_004836.7:c.2071G>A MANE Select	NP_004827.4:p.Asp691Asn
NM_001313915.2:c.1618G>A	NP_001300844.1:p.Asp540Asn