Canonical Allele Identifier: CA2658336170

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• gnomAD v4: 2-27364690-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364690G>C , CM000664.2:g.27364690G>C	GRCh38
NC_000002.11:g.27587557G>C , CM000664.1:g.27587557G>C	GRCh37
NC_000002.10:g.27441061G>C	NCBI36
NG_009305.1:g.10768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1372+28C>G (EIF2B4) MANE Select	ENSP00000233552.6:n.1372+28C>G
ENST00000347454.8:c.1372+28C>G (EIF2B4)	ENSP00000233552.5:n.1372+28C>G
ENST00000405940.6:c.*638+28C>G (EIF2B4)	ENSP00000384375.2:n.*638+28C>G
ENST00000445933.6:c.1369+28C>G (EIF2B4)	ENSP00000394397.2:n.1369+28C>G
ENST00000451130.6:c.1432+28C>G (EIF2B4)	ENSP00000394869.2:n.1432+28C>G
ENST00000478311.1:n.365+28C>G (EIF2B4)
ENST00000493344.6:c.1435+28C>G (EIF2B4)	ENSP00000429323.1:n.1435+28C>G
ENST00000616081.4:c.1363+28C>G (EIF2B4)	ENSP00000477710.1:n.1363+28C>G
ENST00000622434.4:c.*638+28C>G (EIF2B4)	ENSP00000479991.1:n.*638+28C>G
NM_001034116.1:c.1372+28C>G (EIF2B4)	NP_001029288.1:n.1372+28C>G
NM_015636.3:c.1369+28C>G (EIF2B4)	NP_056451.3:n.1369+28C>G
NM_172195.3:c.1432+28C>G (EIF2B4)	NP_751945.2:n.1432+28C>G
XM_005264632.1:c.1327+28C>G (EIF2B4)	XP_005264689.1:n.1327+28C>G
XM_006712132.1:c.1324+28C>G (EIF2B4)	XP_006712195.1:n.1324+28C>G
XM_011533147.1:c.754+28C>G (EIF2B4)	XP_011531449.1:n.754+28C>G
XR_939868.1:n.1772-2734G>C (GTF3C2-AS2)
NM_001318965.1:c.1435+28C>G (EIF2B4)	NP_001305894.1:n.1435+28C>G
NM_001318966.1:c.1327+28C>G (EIF2B4)	NP_001305895.1:n.1327+28C>G
NM_001318967.1:c.1279+28C>G (EIF2B4)	NP_001305896.1:n.1279+28C>G
NM_001318968.1:c.787+28C>G (EIF2B4)	NP_001305897.1:n.787+28C>G
NM_001318969.1:c.754+28C>G (EIF2B4)	NP_001305898.1:n.754+28C>G
XM_011533147.2:c.754+28C>G (EIF2B4)	XP_011531449.1:n.754+28C>G
NM_001034116.2:c.1372+28C>G (EIF2B4) MANE Select	NP_001029288.1:n.1372+28C>G
NM_001318965.2:c.1435+28C>G (EIF2B4)	NP_001305894.1:n.1435+28C>G
NM_001318966.2:c.1327+28C>G (EIF2B4)	NP_001305895.1:n.1327+28C>G
NM_001318967.2:c.1279+28C>G (EIF2B4)	NP_001305896.1:n.1279+28C>G
NM_001318968.2:c.787+28C>G (EIF2B4)	NP_001305897.1:n.787+28C>G
NM_001318969.2:c.754+28C>G (EIF2B4)	NP_001305898.1:n.754+28C>G
NM_015636.4:c.1369+28C>G (EIF2B4)	NP_056451.3:n.1369+28C>G
NM_172195.4:c.1432+28C>G (EIF2B4)	NP_751945.2:n.1432+28C>G