Canonical Allele Identifier: CA347591649

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575102-G-A
• MyVariant Identifiers: chr2:g.88874620G>A (hg19) ; chr2:g.88575102G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575102G>A , CM000664.2:g.88575102G>A	GRCh38
NC_000002.11:g.88874620G>A , CM000664.1:g.88874620G>A	GRCh37
NC_000002.10:g.88655735G>A	NCBI36
NG_016424.1:g.57475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2209C>T
ENST00000682276.1:n.1826C>T
ENST00000682892.1:c.1928C>T	ENSP00000507214.1:p.Pro643Leu
ENST00000682952.1:n.2020C>T
ENST00000684455.1:c.1594C>T
ENST00000684642.1:c.1778C>T	ENSP00000507355.1:p.Pro593Leu
ENST00000684740.1:n.2559C>T
ENST00000303236.9:c.2381C>T MANE Select	ENSP00000307235.3:p.Pro794Leu
ENST00000652099.1:c.2575C>T
ENST00000652736.1:n.2257C>T
ENST00000303236.7:c.2381C>T	ENSP00000307235.3:p.Pro794Leu
ENST00000415570.1:c.2018C>T	ENSP00000412076.1:p.Pro673Leu
ENST00000419748.5:c.1928C>T	ENSP00000408325.1:p.Pro643Leu
ENST00000470706.1:n.49-25C>T
NM_001313915.1:c.1928C>T	NP_001300844.1:p.Pro643Leu
NM_004836.5:c.2381C>T	NP_004827.4:p.Pro794Leu
NM_004836.6:c.2381C>T	NP_004827.4:p.Pro794Leu
NR_110236.1:n.1239G>A
XM_005264649.3:c.1697C>T	XP_005264706.1:p.Pro566Leu
XM_017005376.2:c.1697C>T	XP_016860865.1:p.Pro566Leu
NM_004836.7:c.2381C>T MANE Select	NP_004827.4:p.Pro794Leu
NM_001313915.2:c.1928C>T	NP_001300844.1:p.Pro643Leu