Canonical Allele Identifier: CA346197227

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27587712C>T (hg19) ; chr2:g.27364845C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27364845C>T , CM000664.2:g.27364845C>T	GRCh38
NC_000002.11:g.27587712C>T , CM000664.1:g.27587712C>T	GRCh37
NC_000002.10:g.27441216C>T	NCBI36
NG_009305.1:g.10613G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1245G>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Met415Ile
ENST00000347454.8:c.1245G>A (EIF2B4)	ENSP00000233552.5:p.Met415Ile
ENST00000405940.6:c.*511G>A (EIF2B4)	ENSP00000384375.2:n.*511G>A
ENST00000445933.6:c.1242G>A (EIF2B4)	ENSP00000394397.2:p.Met414Ile
ENST00000451130.6:c.1305G>A (EIF2B4)	ENSP00000394869.2:p.Met435Ile
ENST00000478311.1:n.238G>A (EIF2B4)
ENST00000493344.6:c.1308G>A (EIF2B4)	ENSP00000429323.1:p.Met436Ile
ENST00000616081.4:c.1236G>A (EIF2B4)	ENSP00000477710.1:p.Met412Ile
ENST00000622434.4:c.*511G>A (EIF2B4)	ENSP00000479991.1:n.*511G>A
NM_001034116.1:c.1245G>A (EIF2B4)	NP_001029288.1:p.Met415Ile
NM_015636.3:c.1242G>A (EIF2B4)	NP_056451.3:p.Met414Ile
NM_172195.3:c.1305G>A (EIF2B4)	NP_751945.2:p.Met435Ile
XM_005264632.1:c.1200G>A (EIF2B4)	XP_005264689.1:p.Met400Ile
XM_006712132.1:c.1197G>A (EIF2B4)	XP_006712195.1:p.Met399Ile
XM_011533147.1:c.627G>A (EIF2B4)	XP_011531449.1:p.Met209Ile
XR_939868.1:n.1772-2579C>T (GTF3C2-AS2)
NM_001318965.1:c.1308G>A (EIF2B4)	NP_001305894.1:p.Met436Ile
NM_001318966.1:c.1200G>A (EIF2B4)	NP_001305895.1:p.Met400Ile
NM_001318967.1:c.1152G>A (EIF2B4)	NP_001305896.1:p.Met384Ile
NM_001318968.1:c.660G>A (EIF2B4)	NP_001305897.1:p.Met220Ile
NM_001318969.1:c.627G>A (EIF2B4)	NP_001305898.1:p.Met209Ile
XM_011533147.2:c.627G>A (EIF2B4)	XP_011531449.1:p.Met209Ile
NM_001034116.2:c.1245G>A (EIF2B4) MANE Select	NP_001029288.1:p.Met415Ile
NM_001318965.2:c.1308G>A (EIF2B4)	NP_001305894.1:p.Met436Ile
NM_001318966.2:c.1200G>A (EIF2B4)	NP_001305895.1:p.Met400Ile
NM_001318967.2:c.1152G>A (EIF2B4)	NP_001305896.1:p.Met384Ile
NM_001318968.2:c.660G>A (EIF2B4)	NP_001305897.1:p.Met220Ile
NM_001318969.2:c.627G>A (EIF2B4)	NP_001305898.1:p.Met209Ile
NM_015636.4:c.1242G>A (EIF2B4)	NP_056451.3:p.Met414Ile
NM_172195.4:c.1305G>A (EIF2B4)	NP_751945.2:p.Met435Ile