Canonical Allele Identifier: CA3553525
Gene: DOCK2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.169712158G>A , CM000667.2:g.169712158G>A GRCh38
NC_000005.9:g.169139162G>A , CM000667.1:g.169139162G>A GRCh37
NC_000005.8:g.169071740G>A NCBI36
NG_051800.1:g.79912G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000519628.2:c.1594G>A ENSP00000428841.2:p.Val532Met
ENST00000522138.2:c.*1104G>A ENSP00000512484.1:n.*1104G>A
ENST00000520908.7:c.1594G>A MANE Select ENSP00000429283.3:p.Val532Met
ENST00000523351.6:n.299+151G>A
ENST00000256935.12:c.1594G>A ENSP00000256935.8:p.Val532Met
ENST00000520908.5:c.135+151G>A ENSP00000429283.1:n.135+151G>A
ENST00000524185.5:c.1594G>A ENSP00000428850.1:p.Val532Met
ENST00000540750.5:c.148G>A ENSP00000438827.2:p.Val50Met
NM_004946.2:c.1594G>A NP_004937.1:p.Val532Met
XM_005265830.2:c.1594G>A XP_005265887.1:p.Val532Met
XM_011534448.1:c.1594G>A XP_011532750.1:p.Val532Met
XM_011534449.1:c.1594G>A XP_011532751.1:p.Val532Met
XM_011534450.1:c.1594G>A XP_011532752.1:p.Val532Met
XM_011534451.1:c.1594G>A XP_011532753.1:p.Val532Met
XR_941089.1:n.1674G>A
NM_004946.3:c.1594G>A MANE Select NP_004937.1:p.Val532Met
NR_156756.1:n.1646G>A
XM_005265830.4:c.1594G>A XP_005265887.1:p.Val532Met
XM_011534448.2:c.1594G>A XP_011532750.1:p.Val532Met
XM_011534449.2:c.1594G>A XP_011532751.1:p.Val532Met
XM_011534450.2:c.1594G>A XP_011532752.1:p.Val532Met
XM_011534451.2:c.1594G>A XP_011532753.1:p.Val532Met
XM_017009189.1:c.1594G>A XP_016864678.1:p.Val532Met
XM_017009190.2:c.1594G>A XP_016864679.1:p.Val532Met