Canonical Allele Identifier: CA5787382
Community Standard Title: NM_022772.4(EPS8L2):c.924C>T (p.Pro308=)
Gene: EPS8L2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.721931C>T , CM000673.2:g.721931C>T GRCh38
NC_000011.9:g.721931C>T , CM000673.1:g.721931C>T GRCh37
NC_000011.8:g.711931C>T NCBI36
NG_051601.1:g.21715C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022772.4:c.924C>T MANE Select NP_073609.2:p.Pro308=
ENST00000318562.13:c.924C>T MANE Select ENSP00000320828.8:p.Pro308=
NM_022772.3:c.924C>T NP_073609.2:p.Pro308=
ENST00000318562.12:c.924C>T ENSP00000320828.8:p.Pro308=
ENST00000524474.5:n.588C>T
ENST00000526198.5:c.972C>T ENSP00000436230.1:p.Pro324=
ENST00000526651.5:n.412C>T
ENST00000526909.5:c.*1629C>T ENSP00000433173.1:n.*1629C>T
ENST00000528770.5:c.328-160C>T
ENST00000529346.5:n.1347C>T
ENST00000530452.6:c.317+240C>T
ENST00000530636.5:c.924C>T ENSP00000436035.1:p.Pro308=
ENST00000531393.5:n.6C>T
ENST00000533256.5:c.924C>T ENSP00000435585.1:p.Pro308=
ENST00000533816.1:n.227C>T
ENST00000610855.4:c.-575C>T ENSP00000480704.1:n.-575C>T
ENST00000614442.4:c.972C>T ENSP00000480201.1:p.Pro324=
ENST00000650127.1:c.924C>T ENSP00000497389.1:p.Pro308=
XM_017018131.1:c.924C>T XP_016873620.1:p.Pro308=
XM_017018132.1:c.924C>T XP_016873621.1:p.Pro308=