Canonical Allele Identifier: CA2532387752

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27367970-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367970G>A , CM000664.2:g.27367970G>A	GRCh38
NC_000002.11:g.27590837G>A , CM000664.1:g.27590837G>A	GRCh37
NC_000002.10:g.27444341G>A	NCBI36
NG_009305.1:g.7488C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.705+55C>T MANE Select	ENSP00000233552.6:n.705+55C>T
ENST00000347454.8:c.705+55C>T	ENSP00000233552.5:n.705+55C>T
ENST00000405940.6:c.679+55C>T	ENSP00000384375.2:n.679+55C>T
ENST00000417567.1:c.281+55C>T
ENST00000445933.6:c.702+55C>T	ENSP00000394397.2:n.702+55C>T
ENST00000451130.6:c.765+55C>T	ENSP00000394869.2:n.765+55C>T
ENST00000475582.5:n.1881C>T
ENST00000493344.6:c.768+55C>T	ENSP00000429323.1:n.768+55C>T
ENST00000616081.4:c.696+55C>T	ENSP00000477710.1:n.696+55C>T
ENST00000622434.4:c.660+55C>T	ENSP00000479991.1:n.660+55C>T
NM_001034116.1:c.705+55C>T	NP_001029288.1:n.705+55C>T
NM_015636.3:c.702+55C>T	NP_056451.3:n.702+55C>T
NM_172195.3:c.765+55C>T	NP_751945.2:n.765+55C>T
XM_005264632.1:c.660+55C>T	XP_005264689.1:n.660+55C>T
XM_006712132.1:c.657+55C>T	XP_006712195.1:n.657+55C>T
XM_011533147.1:c.87+55C>T	XP_011531449.1:n.87+55C>T
NM_001318965.1:c.768+55C>T	NP_001305894.1:n.768+55C>T
NM_001318966.1:c.660+55C>T	NP_001305895.1:n.660+55C>T
NM_001318967.1:c.612+55C>T	NP_001305896.1:n.612+55C>T
NM_001318968.1:c.120+55C>T	NP_001305897.1:n.120+55C>T
NM_001318969.1:c.87+55C>T	NP_001305898.1:n.87+55C>T
XM_011533147.2:c.87+55C>T	XP_011531449.1:n.87+55C>T
NM_001034116.2:c.705+55C>T MANE Select	NP_001029288.1:n.705+55C>T
NM_001318965.2:c.768+55C>T	NP_001305894.1:n.768+55C>T
NM_001318966.2:c.660+55C>T	NP_001305895.1:n.660+55C>T
NM_001318967.2:c.612+55C>T	NP_001305896.1:n.612+55C>T
NM_001318968.2:c.120+55C>T	NP_001305897.1:n.120+55C>T
NM_001318969.2:c.87+55C>T	NP_001305898.1:n.87+55C>T
NM_015636.4:c.702+55C>T	NP_056451.3:n.702+55C>T
NM_172195.4:c.765+55C>T	NP_751945.2:n.765+55C>T