Canonical Allele Identifier: CA44512111

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs939789780
• gnomAD v3: 2-27367361-C-CA
• gnomAD v4: 2-27367361-C-CA
• MyVariant Identifiers: chr2:g.27590228_27590229insA (hg19) ; chr2:g.27367361_27367362insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367368dup , CM000664.2:g.27367368dup	GRCh38
NC_000002.11:g.27590235dup , CM000664.1:g.27590235dup	GRCh37
NC_000002.10:g.27443739dup	NCBI36
NG_009305.1:g.8096dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.885+95dup (EIF2B4) MANE Select	ENSP00000233552.6:n.885+95dup
ENST00000347454.8:c.885+95dup (EIF2B4)	ENSP00000233552.5:n.885+95dup
ENST00000405940.6:c.*151+95dup (EIF2B4)	ENSP00000384375.2:n.*151+95dup
ENST00000417567.1:c.462-67dup (EIF2B4)
ENST00000445933.6:c.882+95dup (EIF2B4)	ENSP00000394397.2:n.882+95dup
ENST00000451130.6:c.945+95dup (EIF2B4)	ENSP00000394869.2:n.945+95dup
ENST00000475582.5:n.2489dup (EIF2B4)
ENST00000493344.6:c.948+95dup (EIF2B4)	ENSP00000429323.1:n.948+95dup
ENST00000616081.4:c.876+95dup (EIF2B4)	ENSP00000477710.1:n.876+95dup
ENST00000622434.4:c.*151+95dup (EIF2B4)	ENSP00000479991.1:n.*151+95dup
NM_001034116.1:c.885+95dup (EIF2B4)	NP_001029288.1:n.885+95dup
NM_015636.3:c.882+95dup (EIF2B4)	NP_056451.3:n.882+95dup
NM_172195.3:c.945+95dup (EIF2B4)	NP_751945.2:n.945+95dup
XM_005264632.1:c.840+95dup (EIF2B4)	XP_005264689.1:n.840+95dup
XM_006712132.1:c.837+95dup (EIF2B4)	XP_006712195.1:n.837+95dup
XM_011533147.1:c.267+95dup (EIF2B4)	XP_011531449.1:n.267+95dup
XR_939868.1:n.1772-56dup (GTF3C2-AS2)
NM_001318965.1:c.948+95dup (EIF2B4)	NP_001305894.1:n.948+95dup
NM_001318966.1:c.840+95dup (EIF2B4)	NP_001305895.1:n.840+95dup
NM_001318967.1:c.792+95dup (EIF2B4)	NP_001305896.1:n.792+95dup
NM_001318968.1:c.300+95dup (EIF2B4)	NP_001305897.1:n.300+95dup
NM_001318969.1:c.267+95dup (EIF2B4)	NP_001305898.1:n.267+95dup
XM_011533147.2:c.267+95dup (EIF2B4)	XP_011531449.1:n.267+95dup
NM_001034116.2:c.885+95dup (EIF2B4) MANE Select	NP_001029288.1:n.885+95dup
NM_001318965.2:c.948+95dup (EIF2B4)	NP_001305894.1:n.948+95dup
NM_001318966.2:c.840+95dup (EIF2B4)	NP_001305895.1:n.840+95dup
NM_001318967.2:c.792+95dup (EIF2B4)	NP_001305896.1:n.792+95dup
NM_001318968.2:c.300+95dup (EIF2B4)	NP_001305897.1:n.300+95dup
NM_001318969.2:c.267+95dup (EIF2B4)	NP_001305898.1:n.267+95dup
NM_015636.4:c.882+95dup (EIF2B4)	NP_056451.3:n.882+95dup
NM_172195.4:c.945+95dup (EIF2B4)	NP_751945.2:n.945+95dup