Canonical Allele Identifier: CA378968456

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.721623C>T , CM000673.2:g.721623C>T	GRCh38
NC_000011.9:g.721623C>T , CM000673.1:g.721623C>T	GRCh37
NC_000011.8:g.711623C>T	NCBI36
NG_051601.1:g.21407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318562.13:c.827C>T MANE Select	ENSP00000320828.8:p.Ala276Val
ENST00000650127.1:c.827C>T	ENSP00000497389.1:p.Ala276Val
ENST00000318562.12:c.827C>T	ENSP00000320828.8:p.Ala276Val
ENST00000524474.5:n.491C>T
ENST00000526198.5:c.875C>T	ENSP00000436230.1:p.Ala292Val
ENST00000526651.5:n.315C>T
ENST00000526909.5:c.*1532C>T	ENSP00000433173.1:n.*1532C>T
ENST00000528770.5:c.259C>T
ENST00000529346.5:n.1039C>T
ENST00000530452.6:c.249C>T
ENST00000530636.5:c.827C>T	ENSP00000436035.1:p.Ala276Val
ENST00000531471.1:n.440C>T
ENST00000532545.1:n.242C>T
ENST00000533256.5:c.827C>T	ENSP00000435585.1:p.Ala276Val
ENST00000533816.1:n.130C>T
ENST00000614442.4:c.875C>T	ENSP00000480201.1:p.Ala292Val
NM_022772.3:c.827C>T	NP_073609.2:p.Ala276Val
XM_017018131.1:c.827C>T	XP_016873620.1:p.Ala276Val
XM_017018132.1:c.827C>T	XP_016873621.1:p.Ala276Val
NM_022772.4:c.827C>T MANE Select	NP_073609.2:p.Ala276Val