Canonical Allele Identifier: CA347592980

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1464002
• ClinVar RCV Id: RCV001956775
• dbSNP Id: rs2104412226
• gnomAD v4: 2-88575414-A-G
• MyVariant Identifiers: chr2:g.88874932A>G (hg19) ; chr2:g.88575414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575414A>G , CM000664.2:g.88575414A>G	GRCh38
NC_000002.11:g.88874932A>G , CM000664.1:g.88874932A>G	GRCh37
NC_000002.10:g.88656047A>G	NCBI36
NG_016424.1:g.57163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1897T>C
ENST00000682276.1:n.1514T>C
ENST00000682892.1:c.1616T>C	ENSP00000507214.1:p.Met539Thr
ENST00000682952.1:n.1708T>C
ENST00000684455.1:c.1282T>C
ENST00000684642.1:c.1466T>C	ENSP00000507355.1:p.Met489Thr
ENST00000684740.1:n.2247T>C
ENST00000303236.9:c.2069T>C MANE Select	ENSP00000307235.3:p.Met690Thr
ENST00000652099.1:c.2263T>C
ENST00000652736.1:n.1945T>C
ENST00000303236.7:c.2069T>C	ENSP00000307235.3:p.Met690Thr
ENST00000415570.1:c.1706T>C	ENSP00000412076.1:p.Met569Thr
ENST00000419748.5:c.1616T>C	ENSP00000408325.1:p.Met539Thr
ENST00000478003.1:n.635T>C
NM_001313915.1:c.1616T>C	NP_001300844.1:p.Met539Thr
NM_004836.5:c.2069T>C	NP_004827.4:p.Met690Thr
NM_004836.6:c.2069T>C	NP_004827.4:p.Met690Thr
NR_110236.1:n.1551A>G
XM_005264649.3:c.1385T>C	XP_005264706.1:p.Met462Thr
XR_939749.1:n.2348T>C
XM_017005376.2:c.1385T>C	XP_016860865.1:p.Met462Thr
NM_004836.7:c.2069T>C MANE Select	NP_004827.4:p.Met690Thr
NM_001313915.2:c.1616T>C	NP_001300844.1:p.Met539Thr