Canonical Allele Identifier: CA346197457

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589630G>A (hg19) ; chr2:g.27366763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366763G>A , CM000664.2:g.27366763G>A	GRCh38
NC_000002.11:g.27589630G>A , CM000664.1:g.27589630G>A	GRCh37
NC_000002.10:g.27443134G>A	NCBI36
NG_009305.1:g.8695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.1187C>T (EIF2B4) MANE Select	ENSP00000233552.6:p.Pro396Leu
ENST00000347454.8:c.1187C>T (EIF2B4)	ENSP00000233552.5:p.Pro396Leu
ENST00000405940.6:c.*453C>T (EIF2B4)	ENSP00000384375.2:n.*453C>T
ENST00000417567.1:c.761C>T (EIF2B4)
ENST00000445933.6:c.1184C>T (EIF2B4)	ENSP00000394397.2:p.Pro395Leu
ENST00000451130.6:c.1247C>T (EIF2B4)	ENSP00000394869.2:p.Pro416Leu
ENST00000475582.5:n.3088C>T (EIF2B4)
ENST00000493344.6:c.1250C>T (EIF2B4)	ENSP00000429323.1:p.Pro417Leu
ENST00000616081.4:c.1178C>T (EIF2B4)	ENSP00000477710.1:p.Pro393Leu
ENST00000622434.4:c.*453C>T (EIF2B4)	ENSP00000479991.1:n.*453C>T
NM_001034116.1:c.1187C>T (EIF2B4)	NP_001029288.1:p.Pro396Leu
NM_015636.3:c.1184C>T (EIF2B4)	NP_056451.3:p.Pro395Leu
NM_172195.3:c.1247C>T (EIF2B4)	NP_751945.2:p.Pro416Leu
XM_005264632.1:c.1142C>T (EIF2B4)	XP_005264689.1:p.Pro381Leu
XM_006712132.1:c.1139C>T (EIF2B4)	XP_006712195.1:p.Pro380Leu
XM_011533147.1:c.569C>T (EIF2B4)	XP_011531449.1:p.Pro190Leu
XR_939868.1:n.1772-661G>A (GTF3C2-AS2)
NM_001318965.1:c.1250C>T (EIF2B4)	NP_001305894.1:p.Pro417Leu
NM_001318966.1:c.1142C>T (EIF2B4)	NP_001305895.1:p.Pro381Leu
NM_001318967.1:c.1094C>T (EIF2B4)	NP_001305896.1:p.Pro365Leu
NM_001318968.1:c.602C>T (EIF2B4)	NP_001305897.1:p.Pro201Leu
NM_001318969.1:c.569C>T (EIF2B4)	NP_001305898.1:p.Pro190Leu
XM_011533147.2:c.569C>T (EIF2B4)	XP_011531449.1:p.Pro190Leu
NM_001034116.2:c.1187C>T (EIF2B4) MANE Select	NP_001029288.1:p.Pro396Leu
NM_001318965.2:c.1250C>T (EIF2B4)	NP_001305894.1:p.Pro417Leu
NM_001318966.2:c.1142C>T (EIF2B4)	NP_001305895.1:p.Pro381Leu
NM_001318967.2:c.1094C>T (EIF2B4)	NP_001305896.1:p.Pro365Leu
NM_001318968.2:c.602C>T (EIF2B4)	NP_001305897.1:p.Pro201Leu
NM_001318969.2:c.569C>T (EIF2B4)	NP_001305898.1:p.Pro190Leu
NM_015636.4:c.1184C>T (EIF2B4)	NP_056451.3:p.Pro395Leu
NM_172195.4:c.1247C>T (EIF2B4)	NP_751945.2:p.Pro416Leu