Canonical Allele Identifier: CA1754471

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 731163
• ClinVar RCV Id: RCV000906073 ; RCV002505321 ; RCV003977928
• dbSNP Id: rs777171158
• ExAC: 2:88874715 C / A
• gnomAD v2: 2-88874715-C-A
• gnomAD v3: 2-88575197-C-A
• gnomAD v4: 2-88575197-C-A
• MyVariant Identifiers: chr2:g.88874715C>A (hg19) ; chr2:g.88575197C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575197C>A , CM000664.2:g.88575197C>A	GRCh38
NC_000002.11:g.88874715C>A , CM000664.1:g.88874715C>A	GRCh37
NC_000002.10:g.88655830C>A	NCBI36
NG_016424.1:g.57380G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2114G>T
ENST00000682276.1:n.1731G>T
ENST00000682892.1:c.1833G>T	ENSP00000507214.1:p.Gln611His
ENST00000682952.1:n.1925G>T
ENST00000684455.1:c.1499G>T
ENST00000684642.1:c.1683G>T	ENSP00000507355.1:p.Gln561His
ENST00000684740.1:n.2464G>T
ENST00000303236.9:c.2286G>T MANE Select	ENSP00000307235.3:p.Gln762His
ENST00000652099.1:c.2480G>T
ENST00000652736.1:n.2162G>T
ENST00000303236.7:c.2286G>T	ENSP00000307235.3:p.Gln762His
ENST00000415570.1:c.1923G>T	ENSP00000412076.1:p.Gln641His
ENST00000419748.5:c.1833G>T	ENSP00000408325.1:p.Gln611His
ENST00000470706.1:n.49-120G>T
NM_001313915.1:c.1833G>T	NP_001300844.1:p.Gln611His
NM_004836.5:c.2286G>T	NP_004827.4:p.Gln762His
NM_004836.6:c.2286G>T	NP_004827.4:p.Gln762His
NR_110236.1:n.1334C>A
XM_005264649.3:c.1602G>T	XP_005264706.1:p.Gln534His
XM_017005376.2:c.1602G>T	XP_016860865.1:p.Gln534His
NM_004836.7:c.2286G>T MANE Select	NP_004827.4:p.Gln762His
NM_001313915.2:c.1833G>T	NP_001300844.1:p.Gln611His