Canonical Allele Identifier: CA346199875

Gene: EIF2B4

Linked Data

• dbSNP Id: rs1339530461
• gnomAD v2: 2-27590680-C-G
• gnomAD v3: 2-27367813-C-G
• gnomAD v4: 2-27367813-C-G
• MyVariant Identifiers: chr2:g.27590680C>G (hg19) ; chr2:g.27367813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367813C>G , CM000664.2:g.27367813C>G	GRCh38
NC_000002.11:g.27590680C>G , CM000664.1:g.27590680C>G	GRCh37
NC_000002.10:g.27444184C>G	NCBI36
NG_009305.1:g.7645G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.715G>C MANE Select	ENSP00000233552.6:p.Asp239His
ENST00000347454.8:c.715G>C	ENSP00000233552.5:p.Asp239His
ENST00000405940.6:c.689G>C	ENSP00000384375.2:p.Gly230Ala
ENST00000417567.1:c.291G>C
ENST00000445933.6:c.712G>C	ENSP00000394397.2:p.Asp238His
ENST00000451130.6:c.775G>C	ENSP00000394869.2:p.Asp259His
ENST00000475582.5:n.2038G>C
ENST00000493344.6:c.778G>C	ENSP00000429323.1:p.Asp260His
ENST00000616081.4:c.706G>C	ENSP00000477710.1:p.Asp236His
ENST00000622434.4:c.670G>C	ENSP00000479991.1:p.Asp224His
NM_001034116.1:c.715G>C	NP_001029288.1:p.Asp239His
NM_015636.3:c.712G>C	NP_056451.3:p.Asp238His
NM_172195.3:c.775G>C	NP_751945.2:p.Asp259His
XM_005264632.1:c.670G>C	XP_005264689.1:p.Asp224His
XM_006712132.1:c.667G>C	XP_006712195.1:p.Asp223His
XM_011533147.1:c.97G>C	XP_011531449.1:p.Asp33His
NM_001318965.1:c.778G>C	NP_001305894.1:p.Asp260His
NM_001318966.1:c.670G>C	NP_001305895.1:p.Asp224His
NM_001318967.1:c.622G>C	NP_001305896.1:p.Asp208His
NM_001318968.1:c.130G>C	NP_001305897.1:p.Asp44His
NM_001318969.1:c.97G>C	NP_001305898.1:p.Asp33His
XM_011533147.2:c.97G>C	XP_011531449.1:p.Asp33His
NM_001034116.2:c.715G>C MANE Select	NP_001029288.1:p.Asp239His
NM_001318965.2:c.778G>C	NP_001305894.1:p.Asp260His
NM_001318966.2:c.670G>C	NP_001305895.1:p.Asp224His
NM_001318967.2:c.622G>C	NP_001305896.1:p.Asp208His
NM_001318968.2:c.130G>C	NP_001305897.1:p.Asp44His
NM_001318969.2:c.97G>C	NP_001305898.1:p.Asp33His
NM_015636.4:c.712G>C	NP_056451.3:p.Asp238His
NM_172195.4:c.775G>C	NP_751945.2:p.Asp259His