Canonical Allele Identifier: CA1240245232

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1300362652
• gnomAD v4: 2-27367360-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367360G>A , CM000664.2:g.27367360G>A	GRCh38
NC_000002.11:g.27590227G>A , CM000664.1:g.27590227G>A	GRCh37
NC_000002.10:g.27443731G>A	NCBI36
NG_009305.1:g.8098C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.885+97C>T (EIF2B4) MANE Select	ENSP00000233552.6:n.885+97C>T
ENST00000347454.8:c.885+97C>T (EIF2B4)	ENSP00000233552.5:n.885+97C>T
ENST00000405940.6:c.*151+97C>T (EIF2B4)	ENSP00000384375.2:n.*151+97C>T
ENST00000417567.1:c.462-65C>T (EIF2B4)
ENST00000445933.6:c.882+97C>T (EIF2B4)	ENSP00000394397.2:n.882+97C>T
ENST00000451130.6:c.945+97C>T (EIF2B4)	ENSP00000394869.2:n.945+97C>T
ENST00000475582.5:n.2491C>T (EIF2B4)
ENST00000493344.6:c.948+97C>T (EIF2B4)	ENSP00000429323.1:n.948+97C>T
ENST00000616081.4:c.876+97C>T (EIF2B4)	ENSP00000477710.1:n.876+97C>T
ENST00000622434.4:c.*151+97C>T (EIF2B4)	ENSP00000479991.1:n.*151+97C>T
NM_001034116.1:c.885+97C>T (EIF2B4)	NP_001029288.1:n.885+97C>T
NM_015636.3:c.882+97C>T (EIF2B4)	NP_056451.3:n.882+97C>T
NM_172195.3:c.945+97C>T (EIF2B4)	NP_751945.2:n.945+97C>T
XM_005264632.1:c.840+97C>T (EIF2B4)	XP_005264689.1:n.840+97C>T
XM_006712132.1:c.837+97C>T (EIF2B4)	XP_006712195.1:n.837+97C>T
XM_011533147.1:c.267+97C>T (EIF2B4)	XP_011531449.1:n.267+97C>T
XR_939868.1:n.1772-64G>A (GTF3C2-AS2)
NM_001318965.1:c.948+97C>T (EIF2B4)	NP_001305894.1:n.948+97C>T
NM_001318966.1:c.840+97C>T (EIF2B4)	NP_001305895.1:n.840+97C>T
NM_001318967.1:c.792+97C>T (EIF2B4)	NP_001305896.1:n.792+97C>T
NM_001318968.1:c.300+97C>T (EIF2B4)	NP_001305897.1:n.300+97C>T
NM_001318969.1:c.267+97C>T (EIF2B4)	NP_001305898.1:n.267+97C>T
XM_011533147.2:c.267+97C>T (EIF2B4)	XP_011531449.1:n.267+97C>T
NM_001034116.2:c.885+97C>T (EIF2B4) MANE Select	NP_001029288.1:n.885+97C>T
NM_001318965.2:c.948+97C>T (EIF2B4)	NP_001305894.1:n.948+97C>T
NM_001318966.2:c.840+97C>T (EIF2B4)	NP_001305895.1:n.840+97C>T
NM_001318967.2:c.792+97C>T (EIF2B4)	NP_001305896.1:n.792+97C>T
NM_001318968.2:c.300+97C>T (EIF2B4)	NP_001305897.1:n.300+97C>T
NM_001318969.2:c.267+97C>T (EIF2B4)	NP_001305898.1:n.267+97C>T
NM_015636.4:c.882+97C>T (EIF2B4)	NP_056451.3:n.882+97C>T
NM_172195.4:c.945+97C>T (EIF2B4)	NP_751945.2:n.945+97C>T