Canonical Allele Identifier: CA2576981063
Gene: EIF2B4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27367947T>C , CM000664.2:g.27367947T>C GRCh38
NC_000002.11:g.27590814T>C , CM000664.1:g.27590814T>C GRCh37
NC_000002.10:g.27444318T>C NCBI36
NG_009305.1:g.7511A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000347454.9:c.705+78A>G MANE Select ENSP00000233552.6:n.705+78A>G
ENST00000347454.8:c.705+78A>G ENSP00000233552.5:n.705+78A>G
ENST00000405940.6:c.679+78A>G ENSP00000384375.2:n.679+78A>G
ENST00000417567.1:c.281+78A>G
ENST00000445933.6:c.702+78A>G ENSP00000394397.2:n.702+78A>G
ENST00000451130.6:c.765+78A>G ENSP00000394869.2:n.765+78A>G
ENST00000475582.5:n.1904A>G
ENST00000493344.6:c.768+78A>G ENSP00000429323.1:n.768+78A>G
ENST00000616081.4:c.696+78A>G ENSP00000477710.1:n.696+78A>G
ENST00000622434.4:c.660+78A>G ENSP00000479991.1:n.660+78A>G
NM_001034116.1:c.705+78A>G NP_001029288.1:n.705+78A>G
NM_015636.3:c.702+78A>G NP_056451.3:n.702+78A>G
NM_172195.3:c.765+78A>G NP_751945.2:n.765+78A>G
XM_005264632.1:c.660+78A>G XP_005264689.1:n.660+78A>G
XM_006712132.1:c.657+78A>G XP_006712195.1:n.657+78A>G
XM_011533147.1:c.87+78A>G XP_011531449.1:n.87+78A>G
NM_001318965.1:c.768+78A>G NP_001305894.1:n.768+78A>G
NM_001318966.1:c.660+78A>G NP_001305895.1:n.660+78A>G
NM_001318967.1:c.612+78A>G NP_001305896.1:n.612+78A>G
NM_001318968.1:c.120+78A>G NP_001305897.1:n.120+78A>G
NM_001318969.1:c.87+78A>G NP_001305898.1:n.87+78A>G
XM_011533147.2:c.87+78A>G XP_011531449.1:n.87+78A>G
NM_001034116.2:c.705+78A>G MANE Select NP_001029288.1:n.705+78A>G
NM_001318965.2:c.768+78A>G NP_001305894.1:n.768+78A>G
NM_001318966.2:c.660+78A>G NP_001305895.1:n.660+78A>G
NM_001318967.2:c.612+78A>G NP_001305896.1:n.612+78A>G
NM_001318968.2:c.120+78A>G NP_001305897.1:n.120+78A>G
NM_001318969.2:c.87+78A>G NP_001305898.1:n.87+78A>G
NM_015636.4:c.702+78A>G NP_056451.3:n.702+78A>G
NM_172195.4:c.765+78A>G NP_751945.2:n.765+78A>G