Canonical Allele Identifier: CA7274863

Gene: EIF2B2

Linked Data

• ExAC: 14:75470253 G / GTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC
• MyVariant Identifiers: chr14:g.75470253_75470254insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003550_75003551insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC , CM000676.2:g.75003550_75003551insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC	GRCh38
NC_000014.8:g.75470253_75470254insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC , CM000676.1:g.75470253_75470254insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC	GRCh37
NC_000014.7:g.74540006_74540007insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC	NCBI36
NG_013333.1:g.5642_5643insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC MANE Select	ENSP00000266126.5:n.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAG...
ENST00000266126.9:c.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC	ENSP00000266126.5:n.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAG...
ENST00000553401.5:c.258-1_258insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC	ENSP00000451681.1:n.258-1_258insTTTGAAGAATTTATCTTAAGGAAATAGAG...
ENST00000553539.1:n.579_580insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC
ENST00000555522.1:n.343-1_343insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC
ENST00000556028.5:c.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC	ENSP00000452311.1:n.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAG...
NM_014239.3:c.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC	NP_055054.1:n.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCT...
NM_014239.4:c.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCTATTACACACATACTTTGGGTTC MANE Select	NP_055054.1:n.285-1_285insTTTGAAGAATTTATCTTAAGGAAATAGAGATTTCT...