Canonical Allele Identifier: CA346197230

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587713A>G (hg19) ; chr2:g.27364846A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364846A>G , CM000664.2:g.27364846A>G	GRCh38
NC_000002.11:g.27587713A>G , CM000664.1:g.27587713A>G	GRCh37
NC_000002.10:g.27441217A>G	NCBI36
NG_009305.1:g.10612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1244T>C (EIF2B4) MANE Select	ENSP00000233552.6:p.Met415Thr
ENST00000347454.8:c.1244T>C (EIF2B4)	ENSP00000233552.5:p.Met415Thr
ENST00000405940.6:c.*510T>C (EIF2B4)	ENSP00000384375.2:n.*510T>C
ENST00000445933.6:c.1241T>C (EIF2B4)	ENSP00000394397.2:p.Met414Thr
ENST00000451130.6:c.1304T>C (EIF2B4)	ENSP00000394869.2:p.Met435Thr
ENST00000478311.1:n.237T>C (EIF2B4)
ENST00000493344.6:c.1307T>C (EIF2B4)	ENSP00000429323.1:p.Met436Thr
ENST00000616081.4:c.1235T>C (EIF2B4)	ENSP00000477710.1:p.Met412Thr
ENST00000622434.4:c.*510T>C (EIF2B4)	ENSP00000479991.1:n.*510T>C
NM_001034116.1:c.1244T>C (EIF2B4)	NP_001029288.1:p.Met415Thr
NM_015636.3:c.1241T>C (EIF2B4)	NP_056451.3:p.Met414Thr
NM_172195.3:c.1304T>C (EIF2B4)	NP_751945.2:p.Met435Thr
XM_005264632.1:c.1199T>C (EIF2B4)	XP_005264689.1:p.Met400Thr
XM_006712132.1:c.1196T>C (EIF2B4)	XP_006712195.1:p.Met399Thr
XM_011533147.1:c.626T>C (EIF2B4)	XP_011531449.1:p.Met209Thr
XR_939868.1:n.1772-2578A>G (GTF3C2-AS2)
NM_001318965.1:c.1307T>C (EIF2B4)	NP_001305894.1:p.Met436Thr
NM_001318966.1:c.1199T>C (EIF2B4)	NP_001305895.1:p.Met400Thr
NM_001318967.1:c.1151T>C (EIF2B4)	NP_001305896.1:p.Met384Thr
NM_001318968.1:c.659T>C (EIF2B4)	NP_001305897.1:p.Met220Thr
NM_001318969.1:c.626T>C (EIF2B4)	NP_001305898.1:p.Met209Thr
XM_011533147.2:c.626T>C (EIF2B4)	XP_011531449.1:p.Met209Thr
NM_001034116.2:c.1244T>C (EIF2B4) MANE Select	NP_001029288.1:p.Met415Thr
NM_001318965.2:c.1307T>C (EIF2B4)	NP_001305894.1:p.Met436Thr
NM_001318966.2:c.1199T>C (EIF2B4)	NP_001305895.1:p.Met400Thr
NM_001318967.2:c.1151T>C (EIF2B4)	NP_001305896.1:p.Met384Thr
NM_001318968.2:c.659T>C (EIF2B4)	NP_001305897.1:p.Met220Thr
NM_001318969.2:c.626T>C (EIF2B4)	NP_001305898.1:p.Met209Thr
NM_015636.4:c.1241T>C (EIF2B4)	NP_056451.3:p.Met414Thr
NM_172195.4:c.1304T>C (EIF2B4)	NP_751945.2:p.Met435Thr