Canonical Allele Identifier: CA2699012260

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs2148368672

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364894del , CM000664.2:g.27364894del	GRCh38
NC_000002.11:g.27587761del , CM000664.1:g.27587761del	GRCh37
NC_000002.10:g.27441265del	NCBI36
NG_009305.1:g.10565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1197del (EIF2B4) MANE Select	ENSP00000233552.6:p.Lys400ArgfsTer15
ENST00000347454.8:c.1197del (EIF2B4)	ENSP00000233552.5:p.Lys400ArgfsTer15
ENST00000405940.6:c.*463del (EIF2B4)	ENSP00000384375.2:n.*463del
ENST00000445933.6:c.1194del (EIF2B4)	ENSP00000394397.2:p.Lys399ArgfsTer15
ENST00000451130.6:c.1257del (EIF2B4)	ENSP00000394869.2:p.Lys420ArgfsTer15
ENST00000478311.1:n.190del (EIF2B4)
ENST00000493344.6:c.1260del (EIF2B4)	ENSP00000429323.1:p.Lys421ArgfsTer15
ENST00000616081.4:c.1188del (EIF2B4)	ENSP00000477710.1:p.Lys397ArgfsTer15
ENST00000622434.4:c.*463del (EIF2B4)	ENSP00000479991.1:n.*463del
NM_001034116.1:c.1197del (EIF2B4)	NP_001029288.1:p.Lys400ArgfsTer15
NM_015636.3:c.1194del (EIF2B4)	NP_056451.3:p.Lys399ArgfsTer15
NM_172195.3:c.1257del (EIF2B4)	NP_751945.2:p.Lys420ArgfsTer15
XM_005264632.1:c.1152del (EIF2B4)	XP_005264689.1:p.Lys385ArgfsTer15
XM_006712132.1:c.1149del (EIF2B4)	XP_006712195.1:p.Lys384ArgfsTer15
XM_011533147.1:c.579del (EIF2B4)	XP_011531449.1:p.Lys194ArgfsTer15
XR_939868.1:n.1772-2530del (GTF3C2-AS2)
NM_001318965.1:c.1260del (EIF2B4)	NP_001305894.1:p.Lys421ArgfsTer15
NM_001318966.1:c.1152del (EIF2B4)	NP_001305895.1:p.Lys385ArgfsTer15
NM_001318967.1:c.1104del (EIF2B4)	NP_001305896.1:p.Lys369ArgfsTer15
NM_001318968.1:c.612del (EIF2B4)	NP_001305897.1:p.Lys205ArgfsTer15
NM_001318969.1:c.579del (EIF2B4)	NP_001305898.1:p.Lys194ArgfsTer15
XM_011533147.2:c.579del (EIF2B4)	XP_011531449.1:p.Lys194ArgfsTer15
NM_001034116.2:c.1197del (EIF2B4) MANE Select	NP_001029288.1:p.Lys400ArgfsTer15
NM_001318965.2:c.1260del (EIF2B4)	NP_001305894.1:p.Lys421ArgfsTer15
NM_001318966.2:c.1152del (EIF2B4)	NP_001305895.1:p.Lys385ArgfsTer15
NM_001318967.2:c.1104del (EIF2B4)	NP_001305896.1:p.Lys369ArgfsTer15
NM_001318968.2:c.612del (EIF2B4)	NP_001305897.1:p.Lys205ArgfsTer15
NM_001318969.2:c.579del (EIF2B4)	NP_001305898.1:p.Lys194ArgfsTer15
NM_015636.4:c.1194del (EIF2B4)	NP_056451.3:p.Lys399ArgfsTer15
NM_172195.4:c.1257del (EIF2B4)	NP_751945.2:p.Lys420ArgfsTer15