Canonical Allele Identifier: CA10616694
Gene: ROBO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 346729
ClinVar RCV Id: RCV000298095
dbSNP Id: rs186113368
gnomAD v2: 3-77696267-C-T
gnomAD v3: 3-77647116-C-T
gnomAD v4: 3-77647116-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.77647116C>T , CM000665.2:g.77647116C>T GRCh38
NC_000003.11:g.77696267C>T , CM000665.1:g.77696267C>T GRCh37
NC_000003.10:g.77778957C>T NCBI36
NG_027734.1:g.1745423C>T
NG_027734.2:g.1745423C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000332191.13:c.*1061C>T ENSP00000327536.9:n.*1061C>T
ENST00000471893.2:c.*1058C>T ENSP00000418190.2:n.*1058C>T
ENST00000490534.2:c.*1061C>T ENSP00000417471.2:n.*1061C>T
ENST00000696593.1:c.*1061C>T MANE Select ENSP00000512738.1:n.*1061C>T
ENST00000696631.1:c.*3631C>T ENSP00000512768.1:n.*3631C>T
ENST00000705983.1:c.*1061C>T ENSP00000516193.1:n.*1061C>T
ENST00000705984.1:c.1730C>T ENSP00000516194.1:n.1730C>T
ENST00000332191.12:c.*1061C>T ENSP00000327536.8:n.*1061C>T
ENST00000461745.5:c.*1061C>T ENSP00000417164.1:n.*1061C>T
ENST00000470802.1:n.7186C>T
ENST00000473767.5:c.*3642C>T ENSP00000418117.1:n.*3642C>T
ENST00000487694.7:c.*1061C>T ENSP00000417335.2:n.*1061C>T
ENST00000614793.4:c.4814C>T ENSP00000480344.1:n.4814C>T
NM_001128929.3:c.*1061C>T NP_001122401.1:n.*1061C>T
NM_001290039.1:c.*1061C>T NP_001276968.1:n.*1061C>T
NM_001290040.1:c.*1061C>T NP_001276969.1:n.*1061C>T
NM_001290065.1:c.*1061C>T NP_001276994.1:n.*1061C>T
NM_002942.4:c.*1061C>T NP_002933.1:n.*1061C>T
XM_011533981.1:c.*1058C>T XP_011532283.1:n.*1058C>T
XM_011533982.1:c.*1061C>T XP_011532284.1:n.*1061C>T
XM_011533983.1:c.*1061C>T XP_011532285.1:n.*1061C>T
XM_011533984.1:c.*1061C>T XP_011532286.1:n.*1061C>T
XM_011533985.1:c.*1061C>T XP_011532287.1:n.*1061C>T
XM_011533981.2:c.*1058C>T XP_011532283.1:n.*1058C>T
XM_017006986.1:c.*1061C>T XP_016862475.1:n.*1061C>T
XM_017006987.1:c.*1061C>T XP_016862476.1:n.*1061C>T
XM_017006988.1:c.*1058C>T XP_016862477.1:n.*1058C>T
XM_017006989.1:c.*1061C>T XP_016862478.1:n.*1061C>T
XM_017006990.1:c.*1061C>T XP_016862479.1:n.*1061C>T
XM_017006991.1:c.*1061C>T XP_016862480.1:n.*1061C>T
XM_017006992.1:c.*1061C>T XP_016862481.1:n.*1061C>T
XM_017006993.1:c.*1061C>T XP_016862482.1:n.*1061C>T
XM_017006994.1:c.*1058C>T XP_016862483.1:n.*1058C>T
XM_017006995.1:c.*1058C>T XP_016862484.1:n.*1058C>T
XM_017006996.1:c.*1061C>T XP_016862485.1:n.*1061C>T
XM_017006997.1:c.*1058C>T XP_016862486.1:n.*1058C>T
XM_017006998.1:c.*1061C>T XP_016862487.1:n.*1061C>T
XM_017006999.1:c.*1058C>T XP_016862488.1:n.*1058C>T
XM_017007000.1:c.*1061C>T XP_016862489.1:n.*1061C>T
XM_017007001.1:c.*1058C>T XP_016862490.1:n.*1058C>T
XM_017007002.1:c.*1061C>T XP_016862491.1:n.*1061C>T
XM_017007003.1:c.*1061C>T XP_016862492.1:n.*1061C>T
XM_017007004.1:c.*1061C>T XP_016862493.1:n.*1061C>T
XM_017007005.1:c.*1058C>T XP_016862494.1:n.*1058C>T
XM_017007006.1:c.*1061C>T XP_016862495.1:n.*1061C>T
NM_001290039.2:c.*1061C>T NP_001276968.1:n.*1061C>T
NM_001290040.2:c.*1061C>T NP_001276969.1:n.*1061C>T
NM_001290065.2:c.*1061C>T NP_001276994.1:n.*1061C>T
NM_002942.5:c.*1061C>T NP_002933.1:n.*1061C>T
NM_001378190.1:c.*1061C>T NP_001365119.1:n.*1061C>T
NM_001378191.1:c.*1061C>T NP_001365120.1:n.*1061C>T
NM_001378192.1:c.*1061C>T NP_001365121.1:n.*1061C>T
NM_001378193.1:c.*1061C>T NP_001365122.1:n.*1061C>T
NM_001378194.1:c.*1058C>T NP_001365123.1:n.*1058C>T
NM_001378195.1:c.*1061C>T NP_001365124.1:n.*1061C>T
NM_001378196.1:c.*1058C>T NP_001365125.1:n.*1058C>T
NM_001378197.1:c.*1061C>T NP_001365126.1:n.*1061C>T
NM_001378198.1:c.*1061C>T NP_001365127.1:n.*1061C>T
NM_001378199.1:c.*1058C>T NP_001365128.1:n.*1058C>T
NM_001378200.1:c.*1061C>T NP_001365129.1:n.*1061C>T
NM_001378201.1:c.*1058C>T NP_001365130.1:n.*1058C>T
NM_001378202.1:c.*1061C>T NP_001365131.1:n.*1061C>T
NM_001378203.1:c.*1058C>T NP_001365132.1:n.*1058C>T
NM_001394212.1:c.*1061C>T NP_001381141.1:n.*1061C>T
NM_001394213.1:c.*1061C>T NP_001381142.1:n.*1061C>T
NM_001394214.1:c.*1061C>T NP_001381143.1:n.*1061C>T
NM_001395656.1:c.*1061C>T MANE Select NP_001382585.1:n.*1061C>T
NM_001395657.1:c.*1058C>T NP_001382586.1:n.*1058C>T