Canonical Allele Identifier: CA5787451

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.722151G>A , CM000673.2:g.722151G>A	GRCh38
NC_000011.9:g.722151G>A , CM000673.1:g.722151G>A	GRCh37
NC_000011.8:g.712151G>A	NCBI36
NG_051601.1:g.21935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318562.13:c.1045G>A MANE Select	ENSP00000320828.8:p.Gly349Arg
ENST00000650127.1:c.1045G>A	ENSP00000497389.1:p.Gly349Arg
ENST00000318562.12:c.1045G>A	ENSP00000320828.8:p.Gly349Arg
ENST00000524474.5:n.709G>A
ENST00000526198.5:c.1093G>A	ENSP00000436230.1:p.Gly365Arg
ENST00000526651.5:n.472+160G>A
ENST00000526909.5:c.*1750G>A	ENSP00000433173.1:n.*1750G>A
ENST00000528770.5:c.388G>A
ENST00000529346.5:n.1567G>A
ENST00000530452.6:c.318-250G>A
ENST00000530636.5:c.1045G>A	ENSP00000436035.1:p.Gly349Arg
ENST00000531393.5:n.226G>A
ENST00000533256.5:c.1045G>A	ENSP00000435585.1:p.Gly349Arg
ENST00000533816.1:n.348G>A
ENST00000610855.4:c.-355G>A	ENSP00000480704.1:n.-355G>A
ENST00000614442.4:c.1093G>A	ENSP00000480201.1:p.Gly365Arg
NM_022772.3:c.1045G>A	NP_073609.2:p.Gly349Arg
XM_017018131.1:c.1045G>A	XP_016873620.1:p.Gly349Arg
XM_017018132.1:c.1045G>A	XP_016873621.1:p.Gly349Arg
NM_022772.4:c.1045G>A MANE Select	NP_073609.2:p.Gly349Arg