Canonical Allele Identifier: CA347592979

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874932A>C (hg19) ; chr2:g.88575414A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1897T>G
ENST00000682276.1:n.1514T>G
ENST00000682892.1:c.1616T>G	ENSP00000507214.1:p.Met539Arg
ENST00000682952.1:n.1708T>G
ENST00000684455.1:c.1282T>G
ENST00000684642.1:c.1466T>G	ENSP00000507355.1:p.Met489Arg
ENST00000684740.1:n.2247T>G
ENST00000303236.9:c.2069T>G MANE Select	ENSP00000307235.3:p.Met690Arg
ENST00000652099.1:c.2263T>G
ENST00000652736.1:n.1945T>G
ENST00000303236.7:c.2069T>G	ENSP00000307235.3:p.Met690Arg
ENST00000415570.1:c.1706T>G	ENSP00000412076.1:p.Met569Arg
ENST00000419748.5:c.1616T>G	ENSP00000408325.1:p.Met539Arg
ENST00000478003.1:n.635T>G
NM_001313915.1:c.1616T>G	NP_001300844.1:p.Met539Arg
NM_004836.5:c.2069T>G	NP_004827.4:p.Met690Arg
NM_004836.6:c.2069T>G	NP_004827.4:p.Met690Arg
NR_110236.1:n.1551A>C
XM_005264649.3:c.1385T>G	XP_005264706.1:p.Met462Arg
XR_939749.1:n.2348T>G
XM_017005376.2:c.1385T>G	XP_016860865.1:p.Met462Arg
NM_004836.7:c.2069T>G MANE Select	NP_004827.4:p.Met690Arg
NM_001313915.2:c.1616T>G	NP_001300844.1:p.Met539Arg