Canonical Allele Identifier: CA346199694

Gene: EIF2B4

Linked Data

• dbSNP Id: rs1256981697
• gnomAD v3: 2-27367782-G-A
• gnomAD v4: 2-27367782-G-A
• MyVariant Identifiers: chr2:g.27590649G>A (hg19) ; chr2:g.27367782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367782G>A , CM000664.2:g.27367782G>A	GRCh38
NC_000002.11:g.27590649G>A , CM000664.1:g.27590649G>A	GRCh37
NC_000002.10:g.27444153G>A	NCBI36
NG_009305.1:g.7676C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.746C>T MANE Select	ENSP00000233552.6:p.Ser249Phe
ENST00000347454.8:c.746C>T	ENSP00000233552.5:p.Ser249Phe
ENST00000405940.6:c.*12C>T	ENSP00000384375.2:n.*12C>T
ENST00000417567.1:c.322C>T
ENST00000445933.6:c.743C>T	ENSP00000394397.2:p.Ser248Phe
ENST00000451130.6:c.806C>T	ENSP00000394869.2:p.Ser269Phe
ENST00000475582.5:n.2069C>T
ENST00000493344.6:c.809C>T	ENSP00000429323.1:p.Ser270Phe
ENST00000616081.4:c.737C>T	ENSP00000477710.1:p.Ser246Phe
ENST00000622434.4:c.*12C>T	ENSP00000479991.1:n.*12C>T
NM_001034116.1:c.746C>T	NP_001029288.1:p.Ser249Phe
NM_015636.3:c.743C>T	NP_056451.3:p.Ser248Phe
NM_172195.3:c.806C>T	NP_751945.2:p.Ser269Phe
XM_005264632.1:c.701C>T	XP_005264689.1:p.Ser234Phe
XM_006712132.1:c.698C>T	XP_006712195.1:p.Ser233Phe
XM_011533147.1:c.128C>T	XP_011531449.1:p.Ser43Phe
NM_001318965.1:c.809C>T	NP_001305894.1:p.Ser270Phe
NM_001318966.1:c.701C>T	NP_001305895.1:p.Ser234Phe
NM_001318967.1:c.653C>T	NP_001305896.1:p.Ser218Phe
NM_001318968.1:c.161C>T	NP_001305897.1:p.Ser54Phe
NM_001318969.1:c.128C>T	NP_001305898.1:p.Ser43Phe
XM_011533147.2:c.128C>T	XP_011531449.1:p.Ser43Phe
NM_001034116.2:c.746C>T MANE Select	NP_001029288.1:p.Ser249Phe
NM_001318965.2:c.809C>T	NP_001305894.1:p.Ser270Phe
NM_001318966.2:c.701C>T	NP_001305895.1:p.Ser234Phe
NM_001318967.2:c.653C>T	NP_001305896.1:p.Ser218Phe
NM_001318968.2:c.161C>T	NP_001305897.1:p.Ser54Phe
NM_001318969.2:c.128C>T	NP_001305898.1:p.Ser43Phe
NM_015636.4:c.743C>T	NP_056451.3:p.Ser248Phe
NM_172195.4:c.806C>T	NP_751945.2:p.Ser269Phe