Canonical Allele Identifier: CA346196570

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• dbSNP Id: rs1457280952
• gnomAD v2: 2-27587347-C-T
• MyVariant Identifiers: chr2:g.27587347C>T (hg19) ; chr2:g.27364480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364480C>T , CM000664.2:g.27364480C>T	GRCh38
NC_000002.11:g.27587347C>T , CM000664.1:g.27587347C>T	GRCh37
NC_000002.10:g.27440851C>T	NCBI36
NG_009305.1:g.10978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1492G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Asp498Asn
ENST00000347454.8:c.1492G>A (EIF2B4)	ENSP00000233552.5:p.Asp498Asn
ENST00000405940.6:c.*758G>A (EIF2B4)	ENSP00000384375.2:n.*758G>A
ENST00000445933.6:c.1489G>A (EIF2B4)	ENSP00000394397.2:p.Asp497Asn
ENST00000451130.6:c.1552G>A (EIF2B4)	ENSP00000394869.2:p.Asp518Asn
ENST00000478311.1:n.485G>A (EIF2B4)
ENST00000493344.6:c.1555G>A (EIF2B4)	ENSP00000429323.1:p.Asp519Asn
ENST00000616081.4:c.1483G>A (EIF2B4)	ENSP00000477710.1:p.Asp495Asn
ENST00000622434.4:c.*758G>A (EIF2B4)	ENSP00000479991.1:n.*758G>A
NM_001034116.1:c.1492G>A (EIF2B4)	NP_001029288.1:p.Asp498Asn
NM_015636.3:c.1489G>A (EIF2B4)	NP_056451.3:p.Asp497Asn
NM_172195.3:c.1552G>A (EIF2B4)	NP_751945.2:p.Asp518Asn
XM_005264632.1:c.1447G>A (EIF2B4)	XP_005264689.1:p.Asp483Asn
XM_006712132.1:c.1444G>A (EIF2B4)	XP_006712195.1:p.Asp482Asn
XM_011533147.1:c.874G>A (EIF2B4)	XP_011531449.1:p.Asp292Asn
XR_939868.1:n.1772-2944C>T (GTF3C2-AS2)
NM_001318965.1:c.1555G>A (EIF2B4)	NP_001305894.1:p.Asp519Asn
NM_001318966.1:c.1447G>A (EIF2B4)	NP_001305895.1:p.Asp483Asn
NM_001318967.1:c.1399G>A (EIF2B4)	NP_001305896.1:p.Asp467Asn
NM_001318968.1:c.907G>A (EIF2B4)	NP_001305897.1:p.Asp303Asn
NM_001318969.1:c.874G>A (EIF2B4)	NP_001305898.1:p.Asp292Asn
XM_011533147.2:c.874G>A (EIF2B4)	XP_011531449.1:p.Asp292Asn
NM_001034116.2:c.1492G>A (EIF2B4) MANE Select	NP_001029288.1:p.Asp498Asn
NM_001318965.2:c.1555G>A (EIF2B4)	NP_001305894.1:p.Asp519Asn
NM_001318966.2:c.1447G>A (EIF2B4)	NP_001305895.1:p.Asp483Asn
NM_001318967.2:c.1399G>A (EIF2B4)	NP_001305896.1:p.Asp467Asn
NM_001318968.2:c.907G>A (EIF2B4)	NP_001305897.1:p.Asp303Asn
NM_001318969.2:c.874G>A (EIF2B4)	NP_001305898.1:p.Asp292Asn
NM_015636.4:c.1489G>A (EIF2B4)	NP_056451.3:p.Asp497Asn
NM_172195.4:c.1552G>A (EIF2B4)	NP_751945.2:p.Asp518Asn