Canonical Allele Identifier: CA1576608

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs773426946
• ExAC: 2:27587667 A / G
• gnomAD v2: 2-27587667-A-G
• gnomAD v4: 2-27364800-A-G
• MyVariant Identifiers: chr2:g.27587667A>G (hg19) ; chr2:g.27364800A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364800A>G , CM000664.2:g.27364800A>G	GRCh38
NC_000002.11:g.27587667A>G , CM000664.1:g.27587667A>G	GRCh37
NC_000002.10:g.27441171A>G	NCBI36
NG_009305.1:g.10658T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1290T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.His430=
ENST00000347454.8:c.1290T>C (EIF2B4)	ENSP00000233552.5:p.His430=
ENST00000405940.6:c.*556T>C (EIF2B4)	ENSP00000384375.2:n.*556T>C
ENST00000445933.6:c.1287T>C (EIF2B4)	ENSP00000394397.2:p.His429=
ENST00000451130.6:c.1350T>C (EIF2B4)	ENSP00000394869.2:p.His450=
ENST00000478311.1:n.283T>C (EIF2B4)
ENST00000493344.6:c.1353T>C (EIF2B4)	ENSP00000429323.1:p.His451=
ENST00000616081.4:c.1281T>C (EIF2B4)	ENSP00000477710.1:p.His427=
ENST00000622434.4:c.*556T>C (EIF2B4)	ENSP00000479991.1:n.*556T>C
NM_001034116.1:c.1290T>C (EIF2B4)	NP_001029288.1:p.His430=
NM_015636.3:c.1287T>C (EIF2B4)	NP_056451.3:p.His429=
NM_172195.3:c.1350T>C (EIF2B4)	NP_751945.2:p.His450=
XM_005264632.1:c.1245T>C (EIF2B4)	XP_005264689.1:p.His415=
XM_006712132.1:c.1242T>C (EIF2B4)	XP_006712195.1:p.His414=
XM_011533147.1:c.672T>C (EIF2B4)	XP_011531449.1:p.His224=
XR_939868.1:n.1772-2624A>G (GTF3C2-AS2)
NM_001318965.1:c.1353T>C (EIF2B4)	NP_001305894.1:p.His451=
NM_001318966.1:c.1245T>C (EIF2B4)	NP_001305895.1:p.His415=
NM_001318967.1:c.1197T>C (EIF2B4)	NP_001305896.1:p.His399=
NM_001318968.1:c.705T>C (EIF2B4)	NP_001305897.1:p.His235=
NM_001318969.1:c.672T>C (EIF2B4)	NP_001305898.1:p.His224=
XM_011533147.2:c.672T>C (EIF2B4)	XP_011531449.1:p.His224=
NM_001034116.2:c.1290T>C (EIF2B4) MANE Select	NP_001029288.1:p.His430=
NM_001318965.2:c.1353T>C (EIF2B4)	NP_001305894.1:p.His451=
NM_001318966.2:c.1245T>C (EIF2B4)	NP_001305895.1:p.His415=
NM_001318967.2:c.1197T>C (EIF2B4)	NP_001305896.1:p.His399=
NM_001318968.2:c.705T>C (EIF2B4)	NP_001305897.1:p.His235=
NM_001318969.2:c.672T>C (EIF2B4)	NP_001305898.1:p.His224=
NM_015636.4:c.1287T>C (EIF2B4)	NP_056451.3:p.His429=
NM_172195.4:c.1350T>C (EIF2B4)	NP_751945.2:p.His450=