Canonical Allele Identifier: CA615059720
Gene: EIF2B2 HGNC NCBI

Linked Data

dbSNP Id: rs1249548145
gnomAD v2: 14-75475695-GCCTCAGTTTTA-G
gnomAD v4: 14-75008992-GCCTCAGTTTTA-G
MyVariant Identifiers: chr14:g.75475696_75475706del (hg19) chr14:g.75008993_75009003del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75008996_75009006del , CM000676.2:g.75008996_75009006del GRCh38
NC_000014.8:g.75475699_75475709del , CM000676.1:g.75475699_75475709del GRCh37
NC_000014.7:g.74545452_74545462del NCBI36
NG_013333.1:g.11088_11098del

Transcript Alleles

HGVS Amino-acid Change
ENST00000266126.10:c.899-35_899-25del MANE Select ENSP00000266126.5:n.899-35_899-25del
ENST00000266126.9:c.899-35_899-25del ENSP00000266126.5:n.899-35_899-25del
ENST00000556668.1:n.479-35_479-25del
NM_014239.3:c.899-35_899-25del NP_055054.1:n.899-35_899-25del
NM_014239.4:c.899-35_899-25del MANE Select NP_055054.1:n.899-35_899-25del
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