Canonical Allele Identifier: CA5787506

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.722446T>G , CM000673.2:g.722446T>G	GRCh38
NC_000011.9:g.722446T>G , CM000673.1:g.722446T>G	GRCh37
NC_000011.8:g.712446T>G	NCBI36
NG_051601.1:g.22230T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318562.13:c.1105T>G MANE Select	ENSP00000320828.8:p.Cys369Gly
ENST00000650127.1:c.1105T>G	ENSP00000497389.1:p.Cys369Gly
ENST00000318562.12:c.1105T>G	ENSP00000320828.8:p.Cys369Gly
ENST00000524474.5:n.769T>G
ENST00000526198.5:c.1153T>G	ENSP00000436230.1:p.Cys385Gly
ENST00000526651.5:n.518T>G
ENST00000526909.5:c.*1810T>G	ENSP00000433173.1:n.*1810T>G
ENST00000528770.5:c.448T>G
ENST00000530452.6:c.363T>G
ENST00000530636.5:c.1105T>G	ENSP00000436035.1:p.Cys369Gly
ENST00000531393.5:n.521T>G
ENST00000533256.5:c.1105T>G	ENSP00000435585.1:p.Cys369Gly
ENST00000610855.4:c.-60T>G	ENSP00000480704.1:n.-60T>G
ENST00000614442.4:c.1153T>G	ENSP00000480201.1:p.Cys385Gly
NM_022772.3:c.1105T>G	NP_073609.2:p.Cys369Gly
XM_017018131.1:c.1105T>G	XP_016873620.1:p.Cys369Gly
XM_017018132.1:c.1105T>G	XP_016873621.1:p.Cys369Gly
NM_022772.4:c.1105T>G MANE Select	NP_073609.2:p.Cys369Gly