Canonical Allele Identifier: CA2658336174

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364713-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364713C>G , CM000664.2:g.27364713C>G	GRCh38
NC_000002.11:g.27587580C>G , CM000664.1:g.27587580C>G	GRCh37
NC_000002.10:g.27441084C>G	NCBI36
NG_009305.1:g.10745G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1372+5G>C (EIF2B4) MANE Select	ENSP00000233552.6:n.1372+5G>C
ENST00000347454.8:c.1372+5G>C (EIF2B4)	ENSP00000233552.5:n.1372+5G>C
ENST00000405940.6:c.*638+5G>C (EIF2B4)	ENSP00000384375.2:n.*638+5G>C
ENST00000445933.6:c.1369+5G>C (EIF2B4)	ENSP00000394397.2:n.1369+5G>C
ENST00000451130.6:c.1432+5G>C (EIF2B4)	ENSP00000394869.2:n.1432+5G>C
ENST00000478311.1:n.365+5G>C (EIF2B4)
ENST00000493344.6:c.1435+5G>C (EIF2B4)	ENSP00000429323.1:n.1435+5G>C
ENST00000616081.4:c.1363+5G>C (EIF2B4)	ENSP00000477710.1:n.1363+5G>C
ENST00000622434.4:c.*638+5G>C (EIF2B4)	ENSP00000479991.1:n.*638+5G>C
NM_001034116.1:c.1372+5G>C (EIF2B4)	NP_001029288.1:n.1372+5G>C
NM_015636.3:c.1369+5G>C (EIF2B4)	NP_056451.3:n.1369+5G>C
NM_172195.3:c.1432+5G>C (EIF2B4)	NP_751945.2:n.1432+5G>C
XM_005264632.1:c.1327+5G>C (EIF2B4)	XP_005264689.1:n.1327+5G>C
XM_006712132.1:c.1324+5G>C (EIF2B4)	XP_006712195.1:n.1324+5G>C
XM_011533147.1:c.754+5G>C (EIF2B4)	XP_011531449.1:n.754+5G>C
XR_939868.1:n.1772-2711C>G (GTF3C2-AS2)
NM_001318965.1:c.1435+5G>C (EIF2B4)	NP_001305894.1:n.1435+5G>C
NM_001318966.1:c.1327+5G>C (EIF2B4)	NP_001305895.1:n.1327+5G>C
NM_001318967.1:c.1279+5G>C (EIF2B4)	NP_001305896.1:n.1279+5G>C
NM_001318968.1:c.787+5G>C (EIF2B4)	NP_001305897.1:n.787+5G>C
NM_001318969.1:c.754+5G>C (EIF2B4)	NP_001305898.1:n.754+5G>C
XM_011533147.2:c.754+5G>C (EIF2B4)	XP_011531449.1:n.754+5G>C
NM_001034116.2:c.1372+5G>C (EIF2B4) MANE Select	NP_001029288.1:n.1372+5G>C
NM_001318965.2:c.1435+5G>C (EIF2B4)	NP_001305894.1:n.1435+5G>C
NM_001318966.2:c.1327+5G>C (EIF2B4)	NP_001305895.1:n.1327+5G>C
NM_001318967.2:c.1279+5G>C (EIF2B4)	NP_001305896.1:n.1279+5G>C
NM_001318968.2:c.787+5G>C (EIF2B4)	NP_001305897.1:n.787+5G>C
NM_001318969.2:c.754+5G>C (EIF2B4)	NP_001305898.1:n.754+5G>C
NM_015636.4:c.1369+5G>C (EIF2B4)	NP_056451.3:n.1369+5G>C
NM_172195.4:c.1432+5G>C (EIF2B4)	NP_751945.2:n.1432+5G>C