Canonical Allele Identifier: CA346200035

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27368027-G-A
• MyVariant Identifiers: chr2:g.27590894G>A (hg19) ; chr2:g.27368027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368027G>A , CM000664.2:g.27368027G>A	GRCh38
NC_000002.11:g.27590894G>A , CM000664.1:g.27590894G>A	GRCh37
NC_000002.10:g.27444398G>A	NCBI36
NG_009305.1:g.7431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.703C>T MANE Select	ENSP00000233552.6:p.Gln235Ter
ENST00000347454.8:c.703C>T	ENSP00000233552.5:p.Gln235Ter
ENST00000405940.6:c.677C>T	ENSP00000384375.2:p.Ala226Val
ENST00000417567.1:c.279C>T
ENST00000445933.6:c.700C>T	ENSP00000394397.2:p.Gln234Ter
ENST00000451130.6:c.763C>T	ENSP00000394869.2:p.Gln255Ter
ENST00000475582.5:n.1824C>T
ENST00000493344.6:c.766C>T	ENSP00000429323.1:p.Gln256Ter
ENST00000616081.4:c.694C>T	ENSP00000477710.1:p.Gln232Ter
ENST00000622434.4:c.658C>T	ENSP00000479991.1:p.Gln220Ter
NM_001034116.1:c.703C>T	NP_001029288.1:p.Gln235Ter
NM_015636.3:c.700C>T	NP_056451.3:p.Gln234Ter
NM_172195.3:c.763C>T	NP_751945.2:p.Gln255Ter
XM_005264632.1:c.658C>T	XP_005264689.1:p.Gln220Ter
XM_006712132.1:c.655C>T	XP_006712195.1:p.Gln219Ter
XM_011533147.1:c.85C>T	XP_011531449.1:p.Gln29Ter
NM_001318965.1:c.766C>T	NP_001305894.1:p.Gln256Ter
NM_001318966.1:c.658C>T	NP_001305895.1:p.Gln220Ter
NM_001318967.1:c.610C>T	NP_001305896.1:p.Gln204Ter
NM_001318968.1:c.118C>T	NP_001305897.1:p.Gln40Ter
NM_001318969.1:c.85C>T	NP_001305898.1:p.Gln29Ter
XM_011533147.2:c.85C>T	XP_011531449.1:p.Gln29Ter
NM_001034116.2:c.703C>T MANE Select	NP_001029288.1:p.Gln235Ter
NM_001318965.2:c.766C>T	NP_001305894.1:p.Gln256Ter
NM_001318966.2:c.658C>T	NP_001305895.1:p.Gln220Ter
NM_001318967.2:c.610C>T	NP_001305896.1:p.Gln204Ter
NM_001318968.2:c.118C>T	NP_001305897.1:p.Gln40Ter
NM_001318969.2:c.85C>T	NP_001305898.1:p.Gln29Ter
NM_015636.4:c.700C>T	NP_056451.3:p.Gln234Ter
NM_172195.4:c.763C>T	NP_751945.2:p.Gln255Ter