Canonical Allele Identifier: CA679901171

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.721556T>G , CM000673.2:g.721556T>G	GRCh38
NC_000011.9:g.721556T>G , CM000673.1:g.721556T>G	GRCh37
NC_000011.8:g.711556T>G	NCBI36
NG_051601.1:g.21340T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_022772.4:c.769-9T>G MANE Select	NP_073609.2:n.769-9T>G
ENST00000318562.13:c.769-9T>G MANE Select	ENSP00000320828.8:n.769-9T>G
NM_022772.3:c.769-9T>G	NP_073609.2:n.769-9T>G
ENST00000318562.12:c.769-9T>G	ENSP00000320828.8:n.769-9T>G
ENST00000524474.5:n.433-9T>G
ENST00000526198.5:c.817-9T>G	ENSP00000436230.1:n.817-9T>G
ENST00000526651.5:n.257-9T>G
ENST00000526909.5:c.*1474-9T>G	ENSP00000433173.1:n.*1474-9T>G
ENST00000528770.5:c.201-9T>G
ENST00000529346.5:n.981-9T>G
ENST00000530452.6:c.191-9T>G
ENST00000530636.5:c.769-9T>G	ENSP00000436035.1:n.769-9T>G
ENST00000531471.1:n.382-9T>G
ENST00000532545.1:n.184-9T>G
ENST00000533256.5:c.769-9T>G	ENSP00000435585.1:n.769-9T>G
ENST00000533816.1:n.72-9T>G
ENST00000614442.4:c.817-9T>G	ENSP00000480201.1:n.817-9T>G
ENST00000650127.1:c.769-9T>G	ENSP00000497389.1:n.769-9T>G
XM_017018131.1:c.769-9T>G	XP_016873620.1:n.769-9T>G
XM_017018132.1:c.769-9T>G	XP_016873621.1:n.769-9T>G