Canonical Allele Identifier: CA346196966

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587631C>A (hg19) ; chr2:g.27364764C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364764C>A , CM000664.2:g.27364764C>A	GRCh38
NC_000002.11:g.27587631C>A , CM000664.1:g.27587631C>A	GRCh37
NC_000002.10:g.27441135C>A	NCBI36
NG_009305.1:g.10694G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1326G>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Lys442Asn
ENST00000347454.8:c.1326G>T (EIF2B4)	ENSP00000233552.5:p.Lys442Asn
ENST00000405940.6:c.*592G>T (EIF2B4)	ENSP00000384375.2:n.*592G>T
ENST00000445933.6:c.1323G>T (EIF2B4)	ENSP00000394397.2:p.Lys441Asn
ENST00000451130.6:c.1386G>T (EIF2B4)	ENSP00000394869.2:p.Lys462Asn
ENST00000478311.1:n.319G>T (EIF2B4)
ENST00000493344.6:c.1389G>T (EIF2B4)	ENSP00000429323.1:p.Lys463Asn
ENST00000616081.4:c.1317G>T (EIF2B4)	ENSP00000477710.1:p.Lys439Asn
ENST00000622434.4:c.*592G>T (EIF2B4)	ENSP00000479991.1:n.*592G>T
NM_001034116.1:c.1326G>T (EIF2B4)	NP_001029288.1:p.Lys442Asn
NM_015636.3:c.1323G>T (EIF2B4)	NP_056451.3:p.Lys441Asn
NM_172195.3:c.1386G>T (EIF2B4)	NP_751945.2:p.Lys462Asn
XM_005264632.1:c.1281G>T (EIF2B4)	XP_005264689.1:p.Lys427Asn
XM_006712132.1:c.1278G>T (EIF2B4)	XP_006712195.1:p.Lys426Asn
XM_011533147.1:c.708G>T (EIF2B4)	XP_011531449.1:p.Lys236Asn
XR_939868.1:n.1772-2660C>A (GTF3C2-AS2)
NM_001318965.1:c.1389G>T (EIF2B4)	NP_001305894.1:p.Lys463Asn
NM_001318966.1:c.1281G>T (EIF2B4)	NP_001305895.1:p.Lys427Asn
NM_001318967.1:c.1233G>T (EIF2B4)	NP_001305896.1:p.Lys411Asn
NM_001318968.1:c.741G>T (EIF2B4)	NP_001305897.1:p.Lys247Asn
NM_001318969.1:c.708G>T (EIF2B4)	NP_001305898.1:p.Lys236Asn
XM_011533147.2:c.708G>T (EIF2B4)	XP_011531449.1:p.Lys236Asn
NM_001034116.2:c.1326G>T (EIF2B4) MANE Select	NP_001029288.1:p.Lys442Asn
NM_001318965.2:c.1389G>T (EIF2B4)	NP_001305894.1:p.Lys463Asn
NM_001318966.2:c.1281G>T (EIF2B4)	NP_001305895.1:p.Lys427Asn
NM_001318967.2:c.1233G>T (EIF2B4)	NP_001305896.1:p.Lys411Asn
NM_001318968.2:c.741G>T (EIF2B4)	NP_001305897.1:p.Lys247Asn
NM_001318969.2:c.708G>T (EIF2B4)	NP_001305898.1:p.Lys236Asn
NM_015636.4:c.1323G>T (EIF2B4)	NP_056451.3:p.Lys441Asn
NM_172195.4:c.1386G>T (EIF2B4)	NP_751945.2:p.Lys462Asn