Canonical Allele Identifier: CA5787391

Gene: EPS8L2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.721985C>T , CM000673.2:g.721985C>T	GRCh38
NC_000011.9:g.721985C>T , CM000673.1:g.721985C>T	GRCh37
NC_000011.8:g.711985C>T	NCBI36
NG_051601.1:g.21769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318562.13:c.978C>T MANE Select	ENSP00000320828.8:p.Asn326=
ENST00000650127.1:c.978C>T	ENSP00000497389.1:p.Asn326=
ENST00000318562.12:c.978C>T	ENSP00000320828.8:p.Asn326=
ENST00000524474.5:n.642C>T
ENST00000526198.5:c.1026C>T	ENSP00000436230.1:p.Asn342=
ENST00000526651.5:n.466C>T
ENST00000526909.5:c.*1683C>T	ENSP00000433173.1:n.*1683C>T
ENST00000528770.5:c.328-106C>T
ENST00000529346.5:n.1401C>T
ENST00000530452.6:c.317+294C>T
ENST00000530636.5:c.978C>T	ENSP00000436035.1:p.Asn326=
ENST00000531393.5:n.60C>T
ENST00000533256.5:c.978C>T	ENSP00000435585.1:p.Asn326=
ENST00000533816.1:n.281C>T
ENST00000610855.4:c.-521C>T	ENSP00000480704.1:n.-521C>T
ENST00000614442.4:c.1026C>T	ENSP00000480201.1:p.Asn342=
NM_022772.3:c.978C>T	NP_073609.2:p.Asn326=
XM_017018131.1:c.978C>T	XP_016873620.1:p.Asn326=
XM_017018132.1:c.978C>T	XP_016873621.1:p.Asn326=
NM_022772.4:c.978C>T MANE Select	NP_073609.2:p.Asn326=