Canonical Allele Identifier: CA708571741

Gene: EIF2B2

Linked Data

• dbSNP Id: rs1441861496
• gnomAD v3: 14-75003223-C-T
• gnomAD v4: 14-75003223-C-T
• MyVariant Identifiers: chr14:g.75469926C>T (hg19) ; chr14:g.75003223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75003223C>T , CM000676.2:g.75003223C>T	GRCh38
NC_000014.8:g.75469926C>T , CM000676.1:g.75469926C>T	GRCh37
NC_000014.7:g.74539679C>T	NCBI36
NG_013333.1:g.5315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.164-52C>T MANE Select	ENSP00000266126.5:n.164-52C>T
ENST00000266126.9:c.164-52C>T	ENSP00000266126.5:n.164-52C>T
ENST00000553401.5:c.137-52C>T	ENSP00000451681.1:n.137-52C>T
ENST00000553539.1:n.252C>T
ENST00000555522.1:n.222-52C>T
ENST00000556028.5:c.164-52C>T	ENSP00000452311.1:n.164-52C>T
NM_014239.3:c.164-52C>T	NP_055054.1:n.164-52C>T
NM_014239.4:c.164-52C>T MANE Select	NP_055054.1:n.164-52C>T