Canonical Allele Identifier: CA44512856

Gene: EIF2B4

Linked Data

• dbSNP Id: rs972532369
• gnomAD v4: 2-27367967-TG-T
• MyVariant Identifiers: chr2:g.27590835del (hg19) ; chr2:g.27367968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367971del , CM000664.2:g.27367971del	GRCh38
NC_000002.11:g.27590838del , CM000664.1:g.27590838del	GRCh37
NC_000002.10:g.27444342del	NCBI36
NG_009305.1:g.7490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.705+57del MANE Select	ENSP00000233552.6:n.705+57del
ENST00000347454.8:c.705+57del	ENSP00000233552.5:n.705+57del
ENST00000405940.6:c.679+57del	ENSP00000384375.2:n.679+57del
ENST00000417567.1:c.281+57del
ENST00000445933.6:c.702+57del	ENSP00000394397.2:n.702+57del
ENST00000451130.6:c.765+57del	ENSP00000394869.2:n.765+57del
ENST00000475582.5:n.1883del
ENST00000493344.6:c.768+57del	ENSP00000429323.1:n.768+57del
ENST00000616081.4:c.696+57del	ENSP00000477710.1:n.696+57del
ENST00000622434.4:c.660+57del	ENSP00000479991.1:n.660+57del
NM_001034116.1:c.705+57del	NP_001029288.1:n.705+57del
NM_015636.3:c.702+57del	NP_056451.3:n.702+57del
NM_172195.3:c.765+57del	NP_751945.2:n.765+57del
XM_005264632.1:c.660+57del	XP_005264689.1:n.660+57del
XM_006712132.1:c.657+57del	XP_006712195.1:n.657+57del
XM_011533147.1:c.87+57del	XP_011531449.1:n.87+57del
NM_001318965.1:c.768+57del	NP_001305894.1:n.768+57del
NM_001318966.1:c.660+57del	NP_001305895.1:n.660+57del
NM_001318967.1:c.612+57del	NP_001305896.1:n.612+57del
NM_001318968.1:c.120+57del	NP_001305897.1:n.120+57del
NM_001318969.1:c.87+57del	NP_001305898.1:n.87+57del
XM_011533147.2:c.87+57del	XP_011531449.1:n.87+57del
NM_001034116.2:c.705+57del MANE Select	NP_001029288.1:n.705+57del
NM_001318965.2:c.768+57del	NP_001305894.1:n.768+57del
NM_001318966.2:c.660+57del	NP_001305895.1:n.660+57del
NM_001318967.2:c.612+57del	NP_001305896.1:n.612+57del
NM_001318968.2:c.120+57del	NP_001305897.1:n.120+57del
NM_001318969.2:c.87+57del	NP_001305898.1:n.87+57del
NM_015636.4:c.702+57del	NP_056451.3:n.702+57del
NM_172195.4:c.765+57del	NP_751945.2:n.765+57del