Canonical Allele Identifier: CA447786479
Gene: DOCK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.170034543C>A , CM000667.2:g.170034543C>A GRCh38
NC_000005.9:g.169461547C>A , CM000667.1:g.169461547C>A GRCh37
NC_000005.8:g.169394125C>A NCBI36
NG_051800.1:g.402297C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000520450.6:n.165C>A
ENST00000522138.2:c.*3122C>A ENSP00000512484.1:n.*3122C>A
ENST00000520908.7:c.3612C>A MANE Select ENSP00000429283.3:p.Thr1204=
ENST00000523351.6:n.2252C>A
ENST00000256935.12:c.3612C>A ENSP00000256935.8:p.Thr1204=
ENST00000520908.5:c.2088C>A ENSP00000429283.1:p.Thr696=
ENST00000523351.5:n.1377C>A
ENST00000524185.5:c.*567C>A ENSP00000428850.1:n.*567C>A
NM_004946.2:c.3612C>A NP_004937.1:p.Thr1204=
NM_004946.3:c.3612C>A MANE Select NP_004937.1:p.Thr1204=
NR_156756.1:n.3715C>A