Canonical Allele Identifier: CA378962379

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.720182G>T , CM000673.2:g.720182G>T	GRCh38
NC_000011.9:g.720182G>T , CM000673.1:g.720182G>T	GRCh37
NC_000011.8:g.710182G>T	NCBI36
NG_051601.1:g.19966G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318562.13:c.286G>T MANE Select	ENSP00000320828.8:p.Val96Leu
ENST00000650127.1:c.286G>T	ENSP00000497389.1:p.Val96Leu
ENST00000318562.12:c.286G>T	ENSP00000320828.8:p.Val96Leu
ENST00000524763.5:c.286G>T	ENSP00000435128.1:p.Val96Leu
ENST00000526198.5:c.286G>T	ENSP00000436230.1:p.Val96Leu
ENST00000526909.5:c.*991G>T	ENSP00000433173.1:n.*991G>T
ENST00000527807.5:n.805G>T
ENST00000529346.5:n.450G>T
ENST00000530118.1:n.300G>T
ENST00000530636.5:c.286G>T	ENSP00000436035.1:p.Val96Leu
ENST00000533256.5:c.286G>T	ENSP00000435585.1:p.Val96Leu
ENST00000614442.4:c.286G>T	ENSP00000480201.1:p.Val96Leu
NM_022772.3:c.286G>T	NP_073609.2:p.Val96Leu
XM_017018131.1:c.286G>T	XP_016873620.1:p.Val96Leu
XM_017018132.1:c.286G>T	XP_016873621.1:p.Val96Leu
NM_022772.4:c.286G>T MANE Select	NP_073609.2:p.Val96Leu