Canonical Allele Identifier: CA347592923

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874903T>G (hg19) ; chr2:g.88575385T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575385T>G , CM000664.2:g.88575385T>G	GRCh38
NC_000002.11:g.88874903T>G , CM000664.1:g.88874903T>G	GRCh37
NC_000002.10:g.88656018T>G	NCBI36
NG_016424.1:g.57192A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.1926A>C
ENST00000682276.1:n.1543A>C
ENST00000682892.1:c.1645A>C	ENSP00000507214.1:p.Met549Leu
ENST00000682952.1:n.1737A>C
ENST00000684455.1:c.1311A>C
ENST00000684642.1:c.1495A>C	ENSP00000507355.1:p.Met499Leu
ENST00000684740.1:n.2276A>C
ENST00000303236.9:c.2098A>C MANE Select	ENSP00000307235.3:p.Met700Leu
ENST00000652099.1:c.2292A>C
ENST00000652736.1:n.1974A>C
ENST00000303236.7:c.2098A>C	ENSP00000307235.3:p.Met700Leu
ENST00000415570.1:c.1735A>C	ENSP00000412076.1:p.Met579Leu
ENST00000419748.5:c.1645A>C	ENSP00000408325.1:p.Met549Leu
ENST00000470706.1:n.24A>C
ENST00000478003.1:n.664A>C
NM_001313915.1:c.1645A>C	NP_001300844.1:p.Met549Leu
NM_004836.5:c.2098A>C	NP_004827.4:p.Met700Leu
NM_004836.6:c.2098A>C	NP_004827.4:p.Met700Leu
NR_110236.1:n.1522T>G
XM_005264649.3:c.1414A>C	XP_005264706.1:p.Met472Leu
XR_939749.1:n.2377A>C
XM_017005376.2:c.1414A>C	XP_016860865.1:p.Met472Leu
NM_004836.7:c.2098A>C MANE Select	NP_004827.4:p.Met700Leu
NM_001313915.2:c.1645A>C	NP_001300844.1:p.Met549Leu