Canonical Allele Identifier: CA346199833

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590675G>C (hg19) ; chr2:g.27367808G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367808G>C , CM000664.2:g.27367808G>C	GRCh38
NC_000002.11:g.27590675G>C , CM000664.1:g.27590675G>C	GRCh37
NC_000002.10:g.27444179G>C	NCBI36
NG_009305.1:g.7650C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.720C>G MANE Select	ENSP00000233552.6:p.Tyr240Ter
ENST00000347454.8:c.720C>G	ENSP00000233552.5:p.Tyr240Ter
ENST00000405940.6:c.694C>G	ENSP00000384375.2:p.His232Asp
ENST00000417567.1:c.296C>G
ENST00000445933.6:c.717C>G	ENSP00000394397.2:p.Tyr239Ter
ENST00000451130.6:c.780C>G	ENSP00000394869.2:p.Tyr260Ter
ENST00000475582.5:n.2043C>G
ENST00000493344.6:c.783C>G	ENSP00000429323.1:p.Tyr261Ter
ENST00000616081.4:c.711C>G	ENSP00000477710.1:p.Tyr237Ter
ENST00000622434.4:c.675C>G	ENSP00000479991.1:p.Tyr225Ter
NM_001034116.1:c.720C>G	NP_001029288.1:p.Tyr240Ter
NM_015636.3:c.717C>G	NP_056451.3:p.Tyr239Ter
NM_172195.3:c.780C>G	NP_751945.2:p.Tyr260Ter
XM_005264632.1:c.675C>G	XP_005264689.1:p.Tyr225Ter
XM_006712132.1:c.672C>G	XP_006712195.1:p.Tyr224Ter
XM_011533147.1:c.102C>G	XP_011531449.1:p.Tyr34Ter
NM_001318965.1:c.783C>G	NP_001305894.1:p.Tyr261Ter
NM_001318966.1:c.675C>G	NP_001305895.1:p.Tyr225Ter
NM_001318967.1:c.627C>G	NP_001305896.1:p.Tyr209Ter
NM_001318968.1:c.135C>G	NP_001305897.1:p.Tyr45Ter
NM_001318969.1:c.102C>G	NP_001305898.1:p.Tyr34Ter
XM_011533147.2:c.102C>G	XP_011531449.1:p.Tyr34Ter
NM_001034116.2:c.720C>G MANE Select	NP_001029288.1:p.Tyr240Ter
NM_001318965.2:c.783C>G	NP_001305894.1:p.Tyr261Ter
NM_001318966.2:c.675C>G	NP_001305895.1:p.Tyr225Ter
NM_001318967.2:c.627C>G	NP_001305896.1:p.Tyr209Ter
NM_001318968.2:c.135C>G	NP_001305897.1:p.Tyr45Ter
NM_001318969.2:c.102C>G	NP_001305898.1:p.Tyr34Ter
NM_015636.4:c.717C>G	NP_056451.3:p.Tyr239Ter
NM_172195.4:c.780C>G	NP_751945.2:p.Tyr260Ter