Canonical Allele Identifier: CA7275026

Gene: EIF2B2

Linked Data

• dbSNP Id: rs545617664
• ExAC: 14:75472713 A / C
• gnomAD v2: 14-75472713-A-C
• gnomAD v3: 14-75006010-A-C
• gnomAD v4: 14-75006010-A-C
• MyVariant Identifiers: chr14:g.75472713A>C (hg19) ; chr14:g.75006010A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75006010A>C , CM000676.2:g.75006010A>C	GRCh38
NC_000014.8:g.75472713A>C , CM000676.1:g.75472713A>C	GRCh37
NC_000014.7:g.74542466A>C	NCBI36
NG_013333.1:g.8102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266126.10:c.693+49A>C MANE Select	ENSP00000266126.5:n.693+49A>C
ENST00000266126.9:c.693+49A>C	ENSP00000266126.5:n.693+49A>C
ENST00000553401.5:c.691+49A>C	ENSP00000451681.1:n.691+49A>C
ENST00000554748.2:c.57+49A>C	ENSP00000452582.2:n.57+49A>C
ENST00000556028.5:c.*41+49A>C	ENSP00000452311.1:n.*41+49A>C
NM_014239.3:c.693+49A>C	NP_055054.1:n.693+49A>C
NM_014239.4:c.693+49A>C MANE Select	NP_055054.1:n.693+49A>C