Canonical Allele Identifier: CA346200025

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27368025-C-A
• MyVariant Identifiers: chr2:g.27590892C>A (hg19) ; chr2:g.27368025C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368025C>A , CM000664.2:g.27368025C>A	GRCh38
NC_000002.11:g.27590892C>A , CM000664.1:g.27590892C>A	GRCh37
NC_000002.10:g.27444396C>A	NCBI36
NG_009305.1:g.7433G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.705G>T MANE Select	ENSP00000233552.6:p.Gln235His
ENST00000347454.8:c.705G>T	ENSP00000233552.5:p.Gln235His
ENST00000405940.6:c.679G>T	ENSP00000384375.2:p.Gly227Cys
ENST00000417567.1:c.281G>T
ENST00000445933.6:c.702G>T	ENSP00000394397.2:p.Gln234His
ENST00000451130.6:c.765G>T	ENSP00000394869.2:p.Gln255His
ENST00000475582.5:n.1826G>T
ENST00000493344.6:c.768G>T	ENSP00000429323.1:p.Gln256His
ENST00000616081.4:c.696G>T	ENSP00000477710.1:p.Gln232His
ENST00000622434.4:c.660G>T	ENSP00000479991.1:p.Gln220His
NM_001034116.1:c.705G>T	NP_001029288.1:p.Gln235His
NM_015636.3:c.702G>T	NP_056451.3:p.Gln234His
NM_172195.3:c.765G>T	NP_751945.2:p.Gln255His
XM_005264632.1:c.660G>T	XP_005264689.1:p.Gln220His
XM_006712132.1:c.657G>T	XP_006712195.1:p.Gln219His
XM_011533147.1:c.87G>T	XP_011531449.1:p.Gln29His
NM_001318965.1:c.768G>T	NP_001305894.1:p.Gln256His
NM_001318966.1:c.660G>T	NP_001305895.1:p.Gln220His
NM_001318967.1:c.612G>T	NP_001305896.1:p.Gln204His
NM_001318968.1:c.120G>T	NP_001305897.1:p.Gln40His
NM_001318969.1:c.87G>T	NP_001305898.1:p.Gln29His
XM_011533147.2:c.87G>T	XP_011531449.1:p.Gln29His
NM_001034116.2:c.705G>T MANE Select	NP_001029288.1:p.Gln235His
NM_001318965.2:c.768G>T	NP_001305894.1:p.Gln256His
NM_001318966.2:c.660G>T	NP_001305895.1:p.Gln220His
NM_001318967.2:c.612G>T	NP_001305896.1:p.Gln204His
NM_001318968.2:c.120G>T	NP_001305897.1:p.Gln40His
NM_001318969.2:c.87G>T	NP_001305898.1:p.Gln29His
NM_015636.4:c.702G>T	NP_056451.3:p.Gln234His
NM_172195.4:c.765G>T	NP_751945.2:p.Gln255His