Canonical Allele Identifier: CA2625721395

Gene: EIF2B2

Linked Data

• gnomAD v4: 14-75006088-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006088G>T , CM000676.2:g.75006088G>T	GRCh38
NC_000014.8:g.75472791G>T , CM000676.1:g.75472791G>T	GRCh37
NC_000014.7:g.74542544G>T	NCBI36
NG_013333.1:g.8180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+127G>T MANE Select	ENSP00000266126.5:n.693+127G>T
ENST00000266126.9:c.693+127G>T	ENSP00000266126.5:n.693+127G>T
ENST00000553401.5:c.691+127G>T	ENSP00000451681.1:n.691+127G>T
ENST00000554748.2:c.57+127G>T	ENSP00000452582.2:n.57+127G>T
ENST00000556028.5:c.*41+127G>T	ENSP00000452311.1:n.*41+127G>T
NM_014239.3:c.693+127G>T	NP_055054.1:n.693+127G>T
NM_014239.4:c.693+127G>T MANE Select	NP_055054.1:n.693+127G>T