Canonical Allele Identifier: CA44512858

Gene: EIF2B4

Linked Data

• dbSNP Id: rs907630897
• gnomAD v2: 2-27590841-G-A
• gnomAD v3: 2-27367974-G-A
• gnomAD v4: 2-27367974-G-A
• MyVariant Identifiers: chr2:g.27590841G>A (hg19) ; chr2:g.27367974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367974G>A , CM000664.2:g.27367974G>A	GRCh38
NC_000002.11:g.27590841G>A , CM000664.1:g.27590841G>A	GRCh37
NC_000002.10:g.27444345G>A	NCBI36
NG_009305.1:g.7484C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.705+51C>T MANE Select	ENSP00000233552.6:n.705+51C>T
ENST00000347454.8:c.705+51C>T	ENSP00000233552.5:n.705+51C>T
ENST00000405940.6:c.679+51C>T	ENSP00000384375.2:n.679+51C>T
ENST00000417567.1:c.281+51C>T
ENST00000445933.6:c.702+51C>T	ENSP00000394397.2:n.702+51C>T
ENST00000451130.6:c.765+51C>T	ENSP00000394869.2:n.765+51C>T
ENST00000475582.5:n.1877C>T
ENST00000493344.6:c.768+51C>T	ENSP00000429323.1:n.768+51C>T
ENST00000616081.4:c.696+51C>T	ENSP00000477710.1:n.696+51C>T
ENST00000622434.4:c.660+51C>T	ENSP00000479991.1:n.660+51C>T
NM_001034116.1:c.705+51C>T	NP_001029288.1:n.705+51C>T
NM_015636.3:c.702+51C>T	NP_056451.3:n.702+51C>T
NM_172195.3:c.765+51C>T	NP_751945.2:n.765+51C>T
XM_005264632.1:c.660+51C>T	XP_005264689.1:n.660+51C>T
XM_006712132.1:c.657+51C>T	XP_006712195.1:n.657+51C>T
XM_011533147.1:c.87+51C>T	XP_011531449.1:n.87+51C>T
NM_001318965.1:c.768+51C>T	NP_001305894.1:n.768+51C>T
NM_001318966.1:c.660+51C>T	NP_001305895.1:n.660+51C>T
NM_001318967.1:c.612+51C>T	NP_001305896.1:n.612+51C>T
NM_001318968.1:c.120+51C>T	NP_001305897.1:n.120+51C>T
NM_001318969.1:c.87+51C>T	NP_001305898.1:n.87+51C>T
XM_011533147.2:c.87+51C>T	XP_011531449.1:n.87+51C>T
NM_001034116.2:c.705+51C>T MANE Select	NP_001029288.1:n.705+51C>T
NM_001318965.2:c.768+51C>T	NP_001305894.1:n.768+51C>T
NM_001318966.2:c.660+51C>T	NP_001305895.1:n.660+51C>T
NM_001318967.2:c.612+51C>T	NP_001305896.1:n.612+51C>T
NM_001318968.2:c.120+51C>T	NP_001305897.1:n.120+51C>T
NM_001318969.2:c.87+51C>T	NP_001305898.1:n.87+51C>T
NM_015636.4:c.702+51C>T	NP_056451.3:n.702+51C>T
NM_172195.4:c.765+51C>T	NP_751945.2:n.765+51C>T