Canonical Allele Identifier: CA347595655

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88590580-C-G
• MyVariant Identifiers: chr2:g.88890098C>G (hg19) ; chr2:g.88590580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88590580C>G , CM000664.2:g.88590580C>G	GRCh38
NC_000002.11:g.88890098C>G , CM000664.1:g.88890098C>G	GRCh37
NC_000002.10:g.88671213C>G	NCBI36
NG_016424.1:g.41997G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000681996.1:n.2219G>C
ENST00000682276.1:n.483G>C
ENST00000682892.1:c.575G>C	ENSP00000507214.1:p.Trp192Ser
ENST00000682952.1:n.667G>C
ENST00000684455.1:c.241G>C
ENST00000684642.1:c.425G>C	ENSP00000507355.1:p.Trp142Ser
ENST00000303236.9:c.1028G>C MANE Select	ENSP00000307235.3:p.Trp343Ser
ENST00000652099.1:c.1222G>C
ENST00000652736.1:n.904G>C
ENST00000303236.7:c.1028G>C	ENSP00000307235.3:p.Trp343Ser
ENST00000415570.1:c.665G>C	ENSP00000412076.1:p.Trp222Ser
ENST00000419748.5:c.575G>C	ENSP00000408325.1:p.Trp192Ser
NM_001313915.1:c.575G>C	NP_001300844.1:p.Trp192Ser
NM_004836.5:c.1028G>C	NP_004827.4:p.Trp343Ser
NM_004836.6:c.1028G>C	NP_004827.4:p.Trp343Ser
XM_005264649.3:c.344G>C	XP_005264706.1:p.Trp115Ser
XR_939749.1:n.1237G>C
XM_017005376.2:c.344G>C	XP_016860865.1:p.Trp115Ser
NM_004836.7:c.1028G>C MANE Select	NP_004827.4:p.Trp343Ser
NM_001313915.2:c.575G>C	NP_001300844.1:p.Trp192Ser