Canonical Allele Identifier: CA263655091

Gene: EIF2B2

Linked Data

• dbSNP Id: rs950947243
• gnomAD v3: 14-75006131-GCAT-G
• gnomAD v4: 14-75006131-GCAT-G
• MyVariant Identifiers: chr14:g.75472835_75472837del (hg19) ; chr14:g.75006132_75006134del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006135_75006137del , CM000676.2:g.75006135_75006137del	GRCh38
NC_000014.8:g.75472838_75472840del , CM000676.1:g.75472838_75472840del	GRCh37
NC_000014.7:g.74542591_74542593del	NCBI36
NG_013333.1:g.8227_8229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+174_693+176del MANE Select	ENSP00000266126.5:n.693+174_693+176del
ENST00000266126.9:c.693+174_693+176del	ENSP00000266126.5:n.693+174_693+176del
ENST00000553401.5:c.691+174_691+176del	ENSP00000451681.1:n.691+174_691+176del
ENST00000554748.2:c.57+174_57+176del	ENSP00000452582.2:n.57+174_57+176del
ENST00000556028.5:c.*41+174_*41+176del	ENSP00000452311.1:n.*41+174_*41+176del
NM_014239.3:c.693+174_693+176del	NP_055054.1:n.693+174_693+176del
NM_014239.4:c.693+174_693+176del MANE Select	NP_055054.1:n.693+174_693+176del