Canonical Allele Identifier: CA44512118

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs764226813
• gnomAD v2: 2-27590237-G-T
• gnomAD v3: 2-27367370-G-T
• gnomAD v4: 2-27367370-G-T
• MyVariant Identifiers: chr2:g.27590237G>T (hg19) ; chr2:g.27367370G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367370G>T , CM000664.2:g.27367370G>T	GRCh38
NC_000002.11:g.27590237G>T , CM000664.1:g.27590237G>T	GRCh37
NC_000002.10:g.27443741G>T	NCBI36
NG_009305.1:g.8088C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.885+87C>A (EIF2B4) MANE Select	ENSP00000233552.6:n.885+87C>A
ENST00000347454.8:c.885+87C>A (EIF2B4)	ENSP00000233552.5:n.885+87C>A
ENST00000405940.6:c.*151+87C>A (EIF2B4)	ENSP00000384375.2:n.*151+87C>A
ENST00000417567.1:c.462-75C>A (EIF2B4)
ENST00000445933.6:c.882+87C>A (EIF2B4)	ENSP00000394397.2:n.882+87C>A
ENST00000451130.6:c.945+87C>A (EIF2B4)	ENSP00000394869.2:n.945+87C>A
ENST00000475582.5:n.2481C>A (EIF2B4)
ENST00000493344.6:c.948+87C>A (EIF2B4)	ENSP00000429323.1:n.948+87C>A
ENST00000616081.4:c.876+87C>A (EIF2B4)	ENSP00000477710.1:n.876+87C>A
ENST00000622434.4:c.*151+87C>A (EIF2B4)	ENSP00000479991.1:n.*151+87C>A
NM_001034116.1:c.885+87C>A (EIF2B4)	NP_001029288.1:n.885+87C>A
NM_015636.3:c.882+87C>A (EIF2B4)	NP_056451.3:n.882+87C>A
NM_172195.3:c.945+87C>A (EIF2B4)	NP_751945.2:n.945+87C>A
XM_005264632.1:c.840+87C>A (EIF2B4)	XP_005264689.1:n.840+87C>A
XM_006712132.1:c.837+87C>A (EIF2B4)	XP_006712195.1:n.837+87C>A
XM_011533147.1:c.267+87C>A (EIF2B4)	XP_011531449.1:n.267+87C>A
XR_939868.1:n.1772-54G>T (GTF3C2-AS2)
NM_001318965.1:c.948+87C>A (EIF2B4)	NP_001305894.1:n.948+87C>A
NM_001318966.1:c.840+87C>A (EIF2B4)	NP_001305895.1:n.840+87C>A
NM_001318967.1:c.792+87C>A (EIF2B4)	NP_001305896.1:n.792+87C>A
NM_001318968.1:c.300+87C>A (EIF2B4)	NP_001305897.1:n.300+87C>A
NM_001318969.1:c.267+87C>A (EIF2B4)	NP_001305898.1:n.267+87C>A
XM_011533147.2:c.267+87C>A (EIF2B4)	XP_011531449.1:n.267+87C>A
NM_001034116.2:c.885+87C>A (EIF2B4) MANE Select	NP_001029288.1:n.885+87C>A
NM_001318965.2:c.948+87C>A (EIF2B4)	NP_001305894.1:n.948+87C>A
NM_001318966.2:c.840+87C>A (EIF2B4)	NP_001305895.1:n.840+87C>A
NM_001318967.2:c.792+87C>A (EIF2B4)	NP_001305896.1:n.792+87C>A
NM_001318968.2:c.300+87C>A (EIF2B4)	NP_001305897.1:n.300+87C>A
NM_001318969.2:c.267+87C>A (EIF2B4)	NP_001305898.1:n.267+87C>A
NM_015636.4:c.882+87C>A (EIF2B4)	NP_056451.3:n.882+87C>A
NM_172195.4:c.945+87C>A (EIF2B4)	NP_751945.2:n.945+87C>A