Canonical Allele Identifier: CA346199782

Gene: EIF2B4

Linked Data

• MyVariant Identifiers: chr2:g.27590668G>A (hg19) ; chr2:g.27367801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367801G>A , CM000664.2:g.27367801G>A	GRCh38
NC_000002.11:g.27590668G>A , CM000664.1:g.27590668G>A	GRCh37
NC_000002.10:g.27444172G>A	NCBI36
NG_009305.1:g.7657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.727C>T MANE Select	ENSP00000233552.6:p.Pro243Ser
ENST00000347454.8:c.727C>T	ENSP00000233552.5:p.Pro243Ser
ENST00000405940.6:c.701C>T	ENSP00000384375.2:p.Thr234Ile
ENST00000417567.1:c.303C>T
ENST00000445933.6:c.724C>T	ENSP00000394397.2:p.Pro242Ser
ENST00000451130.6:c.787C>T	ENSP00000394869.2:p.Pro263Ser
ENST00000475582.5:n.2050C>T
ENST00000493344.6:c.790C>T	ENSP00000429323.1:p.Pro264Ser
ENST00000616081.4:c.718C>T	ENSP00000477710.1:p.Pro240Ser
ENST00000622434.4:c.680C>T	ENSP00000479991.1:p.Thr227Ile
NM_001034116.1:c.727C>T	NP_001029288.1:p.Pro243Ser
NM_015636.3:c.724C>T	NP_056451.3:p.Pro242Ser
NM_172195.3:c.787C>T	NP_751945.2:p.Pro263Ser
XM_005264632.1:c.682C>T	XP_005264689.1:p.Pro228Ser
XM_006712132.1:c.679C>T	XP_006712195.1:p.Pro227Ser
XM_011533147.1:c.109C>T	XP_011531449.1:p.Pro37Ser
NM_001318965.1:c.790C>T	NP_001305894.1:p.Pro264Ser
NM_001318966.1:c.682C>T	NP_001305895.1:p.Pro228Ser
NM_001318967.1:c.634C>T	NP_001305896.1:p.Pro212Ser
NM_001318968.1:c.142C>T	NP_001305897.1:p.Pro48Ser
NM_001318969.1:c.109C>T	NP_001305898.1:p.Pro37Ser
XM_011533147.2:c.109C>T	XP_011531449.1:p.Pro37Ser
NM_001034116.2:c.727C>T MANE Select	NP_001029288.1:p.Pro243Ser
NM_001318965.2:c.790C>T	NP_001305894.1:p.Pro264Ser
NM_001318966.2:c.682C>T	NP_001305895.1:p.Pro228Ser
NM_001318967.2:c.634C>T	NP_001305896.1:p.Pro212Ser
NM_001318968.2:c.142C>T	NP_001305897.1:p.Pro48Ser
NM_001318969.2:c.109C>T	NP_001305898.1:p.Pro37Ser
NM_015636.4:c.724C>T	NP_056451.3:p.Pro242Ser
NM_172195.4:c.787C>T	NP_751945.2:p.Pro263Ser