Canonical Allele Identifier: CA347592400

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575268-A-C
• MyVariant Identifiers: chr2:g.88874786A>C (hg19) ; chr2:g.88575268A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575268A>C , CM000664.2:g.88575268A>C	GRCh38
NC_000002.11:g.88874786A>C , CM000664.1:g.88874786A>C	GRCh37
NC_000002.10:g.88655901A>C	NCBI36
NG_016424.1:g.57309T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2043T>G
ENST00000682276.1:n.1660T>G
ENST00000682892.1:c.1762T>G	ENSP00000507214.1:p.Ser588Ala
ENST00000682952.1:n.1854T>G
ENST00000684455.1:c.1428T>G
ENST00000684642.1:c.1612T>G	ENSP00000507355.1:p.Ser538Ala
ENST00000684740.1:n.2393T>G
ENST00000303236.9:c.2215T>G MANE Select	ENSP00000307235.3:p.Ser739Ala
ENST00000652099.1:c.2409T>G
ENST00000652736.1:n.2091T>G
ENST00000303236.7:c.2215T>G	ENSP00000307235.3:p.Ser739Ala
ENST00000415570.1:c.1852T>G	ENSP00000412076.1:p.Ser618Ala
ENST00000419748.5:c.1762T>G	ENSP00000408325.1:p.Ser588Ala
ENST00000470706.1:n.48+93T>G
NM_001313915.1:c.1762T>G	NP_001300844.1:p.Ser588Ala
NM_004836.5:c.2215T>G	NP_004827.4:p.Ser739Ala
NM_004836.6:c.2215T>G	NP_004827.4:p.Ser739Ala
NR_110236.1:n.1405A>C
XM_005264649.3:c.1531T>G	XP_005264706.1:p.Ser511Ala
XR_939749.1:n.2494T>G
XM_017005376.2:c.1531T>G	XP_016860865.1:p.Ser511Ala
NM_004836.7:c.2215T>G MANE Select	NP_004827.4:p.Ser739Ala
NM_001313915.2:c.1762T>G	NP_001300844.1:p.Ser588Ala