Canonical Allele Identifier: CA347584352

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 435048
• ClinVar RCV Id: RCV000502635
• dbSNP Id: rs750529763
• MyVariant Identifiers: chr2:g.88858471T>A (hg19) ; chr2:g.88558953T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88558953T>A , CM000664.2:g.88558953T>A	GRCh38
NC_000002.11:g.88858471T>A , CM000664.1:g.88858471T>A	GRCh37
NC_000002.10:g.88639586T>A	NCBI36
NG_016424.1:g.73624A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652666.2:n.2384A>T
ENST00000682103.1:c.609A>T
ENST00000682276.1:n.2559A>T
ENST00000682468.1:n.652A>T
ENST00000682603.1:c.218-1017A>T
ENST00000682844.1:c.170A>T
ENST00000682892.1:c.2661A>T	ENSP00000507214.1:p.Lys887Asn
ENST00000682952.1:n.2753A>T
ENST00000683663.1:n.3100A>T
ENST00000684455.1:c.2327A>T
ENST00000684642.1:c.2343A>T	ENSP00000507355.1:p.Lys781Asn
ENST00000684740.1:n.3292A>T
ENST00000303236.9:c.3114A>T MANE Select	ENSP00000307235.3:p.Lys1038Asn
ENST00000652099.1:c.3308A>T
ENST00000652666.1:n.144A>T
ENST00000652736.1:n.2990A>T
ENST00000303236.7:c.3114A>T	ENSP00000307235.3:p.Lys1038Asn
ENST00000415570.1:c.2751A>T	ENSP00000412076.1:p.Lys917Asn
ENST00000419748.5:c.2661A>T	ENSP00000408325.1:p.Lys887Asn
NM_001313915.1:c.2661A>T	NP_001300844.1:p.Lys887Asn
NM_004836.5:c.3114A>T	NP_004827.4:p.Lys1038Asn
NM_004836.6:c.3114A>T	NP_004827.4:p.Lys1038Asn
NR_110236.1:n.651-15561T>A
XM_005264649.3:c.2430A>T	XP_005264706.1:p.Lys810Asn
XM_017005376.2:c.2430A>T	XP_016860865.1:p.Lys810Asn
NM_004836.7:c.3114A>T MANE Select	NP_004827.4:p.Lys1038Asn
NM_001313915.2:c.2661A>T	NP_001300844.1:p.Lys887Asn