Canonical Allele Identifier: CA346197493

Gene: EIF2B4 GTF3C2-AS2

Linked Data

• MyVariant Identifiers: chr2:g.27589642G>T (hg19) ; chr2:g.27366775G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27366775G>T , CM000664.2:g.27366775G>T	GRCh38
NC_000002.11:g.27589642G>T , CM000664.1:g.27589642G>T	GRCh37
NC_000002.10:g.27443146G>T	NCBI36
NG_009305.1:g.8683C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.1175C>A (EIF2B4) MANE Select	ENSP00000233552.6:p.Ser392Tyr
ENST00000347454.8:c.1175C>A (EIF2B4)	ENSP00000233552.5:p.Ser392Tyr
ENST00000405940.6:c.*441C>A (EIF2B4)	ENSP00000384375.2:n.*441C>A
ENST00000417567.1:c.749C>A (EIF2B4)
ENST00000445933.6:c.1172C>A (EIF2B4)	ENSP00000394397.2:p.Ser391Tyr
ENST00000451130.6:c.1235C>A (EIF2B4)	ENSP00000394869.2:p.Ser412Tyr
ENST00000475582.5:n.3076C>A (EIF2B4)
ENST00000493344.6:c.1238C>A (EIF2B4)	ENSP00000429323.1:p.Ser413Tyr
ENST00000616081.4:c.1166C>A (EIF2B4)	ENSP00000477710.1:p.Ser389Tyr
ENST00000622434.4:c.*441C>A (EIF2B4)	ENSP00000479991.1:n.*441C>A
NM_001034116.1:c.1175C>A (EIF2B4)	NP_001029288.1:p.Ser392Tyr
NM_015636.3:c.1172C>A (EIF2B4)	NP_056451.3:p.Ser391Tyr
NM_172195.3:c.1235C>A (EIF2B4)	NP_751945.2:p.Ser412Tyr
XM_005264632.1:c.1130C>A (EIF2B4)	XP_005264689.1:p.Ser377Tyr
XM_006712132.1:c.1127C>A (EIF2B4)	XP_006712195.1:p.Ser376Tyr
XM_011533147.1:c.557C>A (EIF2B4)	XP_011531449.1:p.Ser186Tyr
XR_939868.1:n.1772-649G>T (GTF3C2-AS2)
NM_001318965.1:c.1238C>A (EIF2B4)	NP_001305894.1:p.Ser413Tyr
NM_001318966.1:c.1130C>A (EIF2B4)	NP_001305895.1:p.Ser377Tyr
NM_001318967.1:c.1082C>A (EIF2B4)	NP_001305896.1:p.Ser361Tyr
NM_001318968.1:c.590C>A (EIF2B4)	NP_001305897.1:p.Ser197Tyr
NM_001318969.1:c.557C>A (EIF2B4)	NP_001305898.1:p.Ser186Tyr
XM_011533147.2:c.557C>A (EIF2B4)	XP_011531449.1:p.Ser186Tyr
NM_001034116.2:c.1175C>A (EIF2B4) MANE Select	NP_001029288.1:p.Ser392Tyr
NM_001318965.2:c.1238C>A (EIF2B4)	NP_001305894.1:p.Ser413Tyr
NM_001318966.2:c.1130C>A (EIF2B4)	NP_001305895.1:p.Ser377Tyr
NM_001318967.2:c.1082C>A (EIF2B4)	NP_001305896.1:p.Ser361Tyr
NM_001318968.2:c.590C>A (EIF2B4)	NP_001305897.1:p.Ser197Tyr
NM_001318969.2:c.557C>A (EIF2B4)	NP_001305898.1:p.Ser186Tyr
NM_015636.4:c.1172C>A (EIF2B4)	NP_056451.3:p.Ser391Tyr
NM_172195.4:c.1235C>A (EIF2B4)	NP_751945.2:p.Ser412Tyr