Canonical Allele Identifier: CA1576633

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs772714592
• ExAC: 2:27589582 A / ACCTTTTCACCGCCAACTTTGGAGT
• gnomAD v2: 2-27589582-A-ACCTTTTCACCGCCAACTTTGGAGT
• gnomAD v4: 2-27366715-A-ACCTTTTCACCGCCAACTTTGGAGT
• MyVariant Identifiers: chr2:g.27589582_27589583insCCTTTTCACCGCCAACTTTGGAGT (hg19) ; chr2:g.27366715_27366716insCCTTTTCACCGCCAACTTTGGAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366723_27366746dup , CM000664.2:g.27366723_27366746dup	GRCh38
NC_000002.11:g.27589590_27589613dup , CM000664.1:g.27589590_27589613dup	GRCh37
NC_000002.10:g.27443094_27443117dup	NCBI36
NG_009305.1:g.8719_8742dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1191+20_1191+43dup (EIF2B4) MANE Select	ENSP00000233552.6:n.1191+20_1191+43dup
ENST00000347454.8:c.1191+20_1191+43dup (EIF2B4)	ENSP00000233552.5:n.1191+20_1191+43dup
ENST00000405940.6:c.*457+20_*457+43dup (EIF2B4)	ENSP00000384375.2:n.*457+20_*457+43dup
ENST00000445933.6:c.1188+20_1188+43dup (EIF2B4)	ENSP00000394397.2:n.1188+20_1188+43dup
ENST00000451130.6:c.1251+20_1251+43dup (EIF2B4)	ENSP00000394869.2:n.1251+20_1251+43dup
ENST00000475582.5:n.3112_3135dup (EIF2B4)
ENST00000493344.6:c.1254+20_1254+43dup (EIF2B4)	ENSP00000429323.1:n.1254+20_1254+43dup
ENST00000616081.4:c.1182+20_1182+43dup (EIF2B4)	ENSP00000477710.1:n.1182+20_1182+43dup
ENST00000622434.4:c.*457+20_*457+43dup (EIF2B4)	ENSP00000479991.1:n.*457+20_*457+43dup
NM_001034116.1:c.1191+20_1191+43dup (EIF2B4)	NP_001029288.1:n.1191+20_1191+43dup
NM_015636.3:c.1188+20_1188+43dup (EIF2B4)	NP_056451.3:n.1188+20_1188+43dup
NM_172195.3:c.1251+20_1251+43dup (EIF2B4)	NP_751945.2:n.1251+20_1251+43dup
XM_005264632.1:c.1146+20_1146+43dup (EIF2B4)	XP_005264689.1:n.1146+20_1146+43dup
XM_006712132.1:c.1143+20_1143+43dup (EIF2B4)	XP_006712195.1:n.1143+20_1143+43dup
XM_011533147.1:c.573+20_573+43dup (EIF2B4)	XP_011531449.1:n.573+20_573+43dup
XR_939868.1:n.1772-701_1772-678dup (GTF3C2-AS2)
NM_001318965.1:c.1254+20_1254+43dup (EIF2B4)	NP_001305894.1:n.1254+20_1254+43dup
NM_001318966.1:c.1146+20_1146+43dup (EIF2B4)	NP_001305895.1:n.1146+20_1146+43dup
NM_001318967.1:c.1098+20_1098+43dup (EIF2B4)	NP_001305896.1:n.1098+20_1098+43dup
NM_001318968.1:c.606+20_606+43dup (EIF2B4)	NP_001305897.1:n.606+20_606+43dup
NM_001318969.1:c.573+20_573+43dup (EIF2B4)	NP_001305898.1:n.573+20_573+43dup
XM_011533147.2:c.573+20_573+43dup (EIF2B4)	XP_011531449.1:n.573+20_573+43dup
NM_001034116.2:c.1191+20_1191+43dup (EIF2B4) MANE Select	NP_001029288.1:n.1191+20_1191+43dup
NM_001318965.2:c.1254+20_1254+43dup (EIF2B4)	NP_001305894.1:n.1254+20_1254+43dup
NM_001318966.2:c.1146+20_1146+43dup (EIF2B4)	NP_001305895.1:n.1146+20_1146+43dup
NM_001318967.2:c.1098+20_1098+43dup (EIF2B4)	NP_001305896.1:n.1098+20_1098+43dup
NM_001318968.2:c.606+20_606+43dup (EIF2B4)	NP_001305897.1:n.606+20_606+43dup
NM_001318969.2:c.573+20_573+43dup (EIF2B4)	NP_001305898.1:n.573+20_573+43dup
NM_015636.4:c.1188+20_1188+43dup (EIF2B4)	NP_056451.3:n.1188+20_1188+43dup
NM_172195.4:c.1251+20_1251+43dup (EIF2B4)	NP_751945.2:n.1251+20_1251+43dup