Canonical Allele Identifier: CA2147299506

Gene: EIF2B2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006024_75006027delinsTCTC , CM000676.2:g.75006024_75006027delinsTCTC	GRCh38
NC_000014.8:g.75472727_75472730delinsTCTC , CM000676.1:g.75472727_75472730delinsTCTC	GRCh37
NC_000014.7:g.74542480_74542483delinsTCTC	NCBI36
NG_013333.1:g.8116_8119delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+63_693+66delinsTCTC MANE Select	ENSP00000266126.5:n.693+63_693+66delinsTCTC
ENST00000266126.9:c.693+63_693+66delinsTCTC	ENSP00000266126.5:n.693+63_693+66delinsTCTC
ENST00000553401.5:c.691+63_691+66delinsTCTC	ENSP00000451681.1:n.691+63_691+66delinsTCTC
ENST00000554748.2:c.57+63_57+66delinsTCTC	ENSP00000452582.2:n.57+63_57+66delinsTCTC
ENST00000556028.5:c.*41+63_*41+66delinsTCTC	ENSP00000452311.1:n.*41+63_*41+66delinsTCTC
NM_014239.3:c.693+63_693+66delinsTCTC	NP_055054.1:n.693+63_693+66delinsTCTC
NM_014239.4:c.693+63_693+66delinsTCTC MANE Select	NP_055054.1:n.693+63_693+66delinsTCTC