Canonical Allele Identifier: CA347593943

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88583430-C-G
• COSMIC: COSM5775455 ; COSM5775456
• MyVariant Identifiers: chr2:g.88882948C>G (hg19) ; chr2:g.88583430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88583430C>G , CM000664.2:g.88583430C>G	GRCh38
NC_000002.11:g.88882948C>G , CM000664.1:g.88882948C>G	GRCh37
NC_000002.10:g.88664063C>G	NCBI36
NG_016424.1:g.49147G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682276.1:n.1208G>C
ENST00000682892.1:c.1310G>C	ENSP00000507214.1:p.Arg437Pro
ENST00000682952.1:n.1402G>C
ENST00000684455.1:c.976G>C
ENST00000684642.1:c.1160G>C	ENSP00000507355.1:p.Arg387Pro
ENST00000303236.9:c.1763G>C MANE Select	ENSP00000307235.3:p.Arg588Pro
ENST00000652099.1:c.1957G>C
ENST00000652736.1:n.1639G>C
ENST00000303236.7:c.1763G>C	ENSP00000307235.3:p.Arg588Pro
ENST00000415570.1:c.1400G>C	ENSP00000412076.1:p.Arg467Pro
ENST00000419748.5:c.1310G>C	ENSP00000408325.1:p.Arg437Pro
NM_001313915.1:c.1310G>C	NP_001300844.1:p.Arg437Pro
NM_004836.5:c.1763G>C	NP_004827.4:p.Arg588Pro
NM_004836.6:c.1763G>C	NP_004827.4:p.Arg588Pro
XM_005264649.3:c.1079G>C	XP_005264706.1:p.Arg360Pro
XR_939749.1:n.1972G>C
XM_017005376.2:c.1079G>C	XP_016860865.1:p.Arg360Pro
NM_004836.7:c.1763G>C MANE Select	NP_004827.4:p.Arg588Pro
NM_001313915.2:c.1310G>C	NP_001300844.1:p.Arg437Pro