Canonical Allele Identifier: CA347592975

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1511422
• ClinVar RCV Id: RCV002043324
• dbSNP Id: rs2104412213
• gnomAD v4: 2-88575412-C-A
• MyVariant Identifiers: chr2:g.88874930C>A (hg19) ; chr2:g.88575412C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575412C>A , CM000664.2:g.88575412C>A	GRCh38
NC_000002.11:g.88874930C>A , CM000664.1:g.88874930C>A	GRCh37
NC_000002.10:g.88656045C>A	NCBI36
NG_016424.1:g.57165G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1899G>T
ENST00000682276.1:n.1516G>T
ENST00000682892.1:c.1618G>T	ENSP00000507214.1:p.Asp540Tyr
ENST00000682952.1:n.1710G>T
ENST00000684455.1:c.1284G>T
ENST00000684642.1:c.1468G>T	ENSP00000507355.1:p.Asp490Tyr
ENST00000684740.1:n.2249G>T
ENST00000303236.9:c.2071G>T MANE Select	ENSP00000307235.3:p.Asp691Tyr
ENST00000652099.1:c.2265G>T
ENST00000652736.1:n.1947G>T
ENST00000303236.7:c.2071G>T	ENSP00000307235.3:p.Asp691Tyr
ENST00000415570.1:c.1708G>T	ENSP00000412076.1:p.Asp570Tyr
ENST00000419748.5:c.1618G>T	ENSP00000408325.1:p.Asp540Tyr
ENST00000478003.1:n.637G>T
NM_001313915.1:c.1618G>T	NP_001300844.1:p.Asp540Tyr
NM_004836.5:c.2071G>T	NP_004827.4:p.Asp691Tyr
NM_004836.6:c.2071G>T	NP_004827.4:p.Asp691Tyr
NR_110236.1:n.1549C>A
XM_005264649.3:c.1387G>T	XP_005264706.1:p.Asp463Tyr
XR_939749.1:n.2350G>T
XM_017005376.2:c.1387G>T	XP_016860865.1:p.Asp463Tyr
NM_004836.7:c.2071G>T MANE Select	NP_004827.4:p.Asp691Tyr
NM_001313915.2:c.1618G>T	NP_001300844.1:p.Asp540Tyr