Canonical Allele Identifier: CA2147299546

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006131_75006134delinsGCAT , CM000676.2:g.75006131_75006134delinsGCAT	GRCh38
NC_000014.8:g.75472834_75472837delinsGCAT , CM000676.1:g.75472834_75472837delinsGCAT	GRCh37
NC_000014.7:g.74542587_74542590delinsGCAT	NCBI36
NG_013333.1:g.8223_8226delinsGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+170_693+173delinsGCAT MANE Select	ENSP00000266126.5:n.693+170_693+173delinsGCAT
ENST00000266126.9:c.693+170_693+173delinsGCAT	ENSP00000266126.5:n.693+170_693+173delinsGCAT
ENST00000553401.5:c.691+170_691+173delinsGCAT	ENSP00000451681.1:n.691+170_691+173delinsGCAT
ENST00000554748.2:c.57+170_57+173delinsGCAT	ENSP00000452582.2:n.57+170_57+173delinsGCAT
ENST00000556028.5:c.*41+170_*41+173delinsGCAT	ENSP00000452311.1:n.*41+170_*41+173delinsGCAT
NM_014239.3:c.693+170_693+173delinsGCAT	NP_055054.1:n.693+170_693+173delinsGCAT
NM_014239.4:c.693+170_693+173delinsGCAT MANE Select	NP_055054.1:n.693+170_693+173delinsGCAT