Canonical Allele Identifier: CA5787371

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.721910C>T , CM000673.2:g.721910C>T	GRCh38
NC_000011.9:g.721910C>T , CM000673.1:g.721910C>T	GRCh37
NC_000011.8:g.711910C>T	NCBI36
NG_051601.1:g.21694C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022772.4:c.903C>T MANE Select	NP_073609.2:p.Val301=
ENST00000318562.13:c.903C>T MANE Select	ENSP00000320828.8:p.Val301=
NM_022772.3:c.903C>T	NP_073609.2:p.Val301=
ENST00000318562.12:c.903C>T	ENSP00000320828.8:p.Val301=
ENST00000524474.5:n.567C>T
ENST00000526198.5:c.951C>T	ENSP00000436230.1:p.Val317=
ENST00000526651.5:n.391C>T
ENST00000526909.5:c.*1608C>T	ENSP00000433173.1:n.*1608C>T
ENST00000528770.5:c.328-181C>T
ENST00000529346.5:n.1326C>T
ENST00000530452.6:c.317+219C>T
ENST00000530636.5:c.903C>T	ENSP00000436035.1:p.Val301=
ENST00000533256.5:c.903C>T	ENSP00000435585.1:p.Val301=
ENST00000533816.1:n.206C>T
ENST00000614442.4:c.951C>T	ENSP00000480201.1:p.Val317=
ENST00000650127.1:c.903C>T	ENSP00000497389.1:p.Val301=
XM_017018131.1:c.903C>T	XP_016873620.1:p.Val301=
XM_017018132.1:c.903C>T	XP_016873621.1:p.Val301=