Canonical Allele Identifier: CA427445214

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575158-A-C
• MyVariant Identifiers: chr2:g.88874676A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575158A>C , CM000664.2:g.88575158A>C	GRCh38
NC_000002.11:g.88874676A>C , CM000664.1:g.88874676A>C	GRCh37
NC_000002.10:g.88655791A>C	NCBI36
NG_016424.1:g.57419T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2153T>G
ENST00000682276.1:n.1770T>G
ENST00000682892.1:c.1872T>G	ENSP00000507214.1:p.Thr624=
ENST00000682952.1:n.1964T>G
ENST00000684455.1:c.1538T>G
ENST00000684642.1:c.1722T>G	ENSP00000507355.1:p.Thr574=
ENST00000684740.1:n.2503T>G
ENST00000303236.9:c.2325T>G MANE Select	ENSP00000307235.3:p.Thr775=
ENST00000652099.1:c.2519T>G
ENST00000652736.1:n.2201T>G
ENST00000303236.7:c.2325T>G	ENSP00000307235.3:p.Thr775=
ENST00000415570.1:c.1962T>G	ENSP00000412076.1:p.Thr654=
ENST00000419748.5:c.1872T>G	ENSP00000408325.1:p.Thr624=
ENST00000470706.1:n.49-81T>G
NM_001313915.1:c.1872T>G	NP_001300844.1:p.Thr624=
NM_004836.5:c.2325T>G	NP_004827.4:p.Thr775=
NM_004836.6:c.2325T>G	NP_004827.4:p.Thr775=
NR_110236.1:n.1295A>C
XM_005264649.3:c.1641T>G	XP_005264706.1:p.Thr547=
XM_017005376.2:c.1641T>G	XP_016860865.1:p.Thr547=
NM_004836.7:c.2325T>G MANE Select	NP_004827.4:p.Thr775=
NM_001313915.2:c.1872T>G	NP_001300844.1:p.Thr624=