Canonical Allele Identifier: CA347591418

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575052-A-C
• MyVariant Identifiers: chr2:g.88874570A>C (hg19) ; chr2:g.88575052A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575052A>C , CM000664.2:g.88575052A>C	GRCh38
NC_000002.11:g.88874570A>C , CM000664.1:g.88874570A>C	GRCh37
NC_000002.10:g.88655685A>C	NCBI36
NG_016424.1:g.57525T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2259T>G
ENST00000682276.1:n.1876T>G
ENST00000682892.1:c.1978T>G	ENSP00000507214.1:p.Ser660Ala
ENST00000682952.1:n.2070T>G
ENST00000684455.1:c.1644T>G
ENST00000684642.1:c.1828T>G	ENSP00000507355.1:p.Ser610Ala
ENST00000684740.1:n.2609T>G
ENST00000303236.9:c.2431T>G MANE Select	ENSP00000307235.3:p.Ser811Ala
ENST00000652099.1:c.2625T>G
ENST00000652736.1:n.2307T>G
ENST00000303236.7:c.2431T>G	ENSP00000307235.3:p.Ser811Ala
ENST00000415570.1:c.2068T>G	ENSP00000412076.1:p.Ser690Ala
ENST00000419748.5:c.1978T>G	ENSP00000408325.1:p.Ser660Ala
ENST00000470706.1:n.74T>G
NM_001313915.1:c.1978T>G	NP_001300844.1:p.Ser660Ala
NM_004836.5:c.2431T>G	NP_004827.4:p.Ser811Ala
NM_004836.6:c.2431T>G	NP_004827.4:p.Ser811Ala
NR_110236.1:n.1189A>C
XM_005264649.3:c.1747T>G	XP_005264706.1:p.Ser583Ala
XM_017005376.2:c.1747T>G	XP_016860865.1:p.Ser583Ala
NM_004836.7:c.2431T>G MANE Select	NP_004827.4:p.Ser811Ala
NM_001313915.2:c.1978T>G	NP_001300844.1:p.Ser660Ala