Canonical Allele Identifier: CA2497779

Gene: ROBO2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.77634993G>T , CM000665.2:g.77634993G>T	GRCh38
NC_000003.11:g.77684144G>T , CM000665.1:g.77684144G>T	GRCh37
NC_000003.10:g.77766834G>T	NCBI36
NG_027734.1:g.1733300G>T
NG_027734.2:g.1733300G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332191.13:c.4079G>T	ENSP00000327536.9:p.Arg1360Leu
ENST00000471893.2:c.4070G>T	ENSP00000418190.2:p.Arg1357Leu
ENST00000475334.2:c.3965G>T	ENSP00000418446.2:p.Arg1322Leu
ENST00000490534.2:c.3884G>T	ENSP00000417471.2:p.Arg1295Leu
ENST00000696574.1:c.*827G>T	ENSP00000512729.1:n.*827G>T
ENST00000696593.1:c.3896G>T MANE Select	ENSP00000512738.1:p.Arg1299Leu
ENST00000696629.1:c.4070G>T	ENSP00000512766.1:p.Arg1357Leu
ENST00000696630.1:c.4070G>T	ENSP00000512767.1:p.Arg1357Leu
ENST00000696631.1:c.*2317G>T	ENSP00000512768.1:n.*2317G>T
ENST00000705983.1:c.4010G>T	ENSP00000516193.1:p.Arg1337Leu
ENST00000705984.1:c.152G>T	ENSP00000516194.1:p.Arg51Leu
ENST00000332191.12:c.4067G>T	ENSP00000327536.8:p.Arg1356Leu
ENST00000461745.5:c.3884G>T	ENSP00000417164.1:p.Arg1295Leu
ENST00000470802.1:n.5872G>T
ENST00000473767.5:c.*2328G>T	ENSP00000418117.1:n.*2328G>T
ENST00000475334.1:c.378G>T
ENST00000487694.7:c.3932G>T	ENSP00000417335.2:p.Arg1311Leu
ENST00000490534.1:c.69G>T
ENST00000614793.4:c.3500G>T	ENSP00000480344.1:p.Arg1167Leu
NM_001128929.3:c.3932G>T	NP_001122401.1:p.Arg1311Leu
NM_001290039.1:c.3896G>T	NP_001276968.1:p.Arg1299Leu
NM_001290040.1:c.4079G>T	NP_001276969.1:p.Arg1360Leu
NM_001290065.1:c.2105G>T	NP_001276994.1:p.Arg702Leu
NM_002942.4:c.3884G>T	NP_002933.1:p.Arg1295Leu
XM_011533981.1:c.4274G>T	XP_011532283.1:p.Arg1425Leu
XM_011533982.1:c.4148G>T	XP_011532284.1:p.Arg1383Leu
XM_011533983.1:c.4091G>T	XP_011532285.1:p.Arg1364Leu
XM_011533984.1:c.4091G>T	XP_011532286.1:p.Arg1364Leu
XM_011533985.1:c.3965G>T	XP_011532287.1:p.Arg1322Leu
XM_011533981.2:c.4274G>T	XP_011532283.1:p.Arg1425Leu
XM_017006986.1:c.4205G>T	XP_016862475.1:p.Arg1402Leu
XM_017006987.1:c.4139G>T	XP_016862476.1:p.Arg1380Leu
XM_017006988.1:c.4091G>T	XP_016862477.1:p.Arg1364Leu
XM_017006989.1:c.4079G>T	XP_016862478.1:p.Arg1360Leu
XM_017006990.1:c.4070G>T	XP_016862479.1:p.Arg1357Leu
XM_017006991.1:c.3965G>T	XP_016862480.1:p.Arg1322Leu
XM_017006992.1:c.3944G>T	XP_016862481.1:p.Arg1315Leu
XM_017006993.1:c.3884G>T	XP_016862482.1:p.Arg1295Leu
XM_017006994.1:c.4091G>T	XP_016862483.1:p.Arg1364Leu
XM_017006995.1:c.4082G>T	XP_016862484.1:p.Arg1361Leu
XM_017006996.1:c.4070G>T	XP_016862485.1:p.Arg1357Leu
XM_017006997.1:c.4070G>T	XP_016862486.1:p.Arg1357Leu
XM_017006998.1:c.4022G>T	XP_016862487.1:p.Arg1341Leu
XM_017006999.1:c.4022G>T	XP_016862488.1:p.Arg1341Leu
XM_017007000.1:c.4010G>T	XP_016862489.1:p.Arg1337Leu
XM_017007001.1:c.3965G>T	XP_016862490.1:p.Arg1322Leu
XM_017007002.1:c.3956G>T	XP_016862491.1:p.Arg1319Leu
XM_017007003.1:c.3953G>T	XP_016862492.1:p.Arg1318Leu
XM_017007004.1:c.3944G>T	XP_016862493.1:p.Arg1315Leu
XM_017007005.1:c.3944G>T	XP_016862494.1:p.Arg1315Leu
XM_017007006.1:c.3887G>T	XP_016862495.1:p.Arg1296Leu
NM_001290039.2:c.3896G>T	NP_001276968.1:p.Arg1299Leu
NM_001290040.2:c.4079G>T	NP_001276969.1:p.Arg1360Leu
NM_001290065.2:c.2105G>T	NP_001276994.1:p.Arg702Leu
NM_002942.5:c.3884G>T	NP_002933.1:p.Arg1295Leu
NM_001378190.1:c.3944G>T	NP_001365119.1:p.Arg1315Leu
NM_001378191.1:c.4070G>T	NP_001365120.1:p.Arg1357Leu
NM_001378192.1:c.3965G>T	NP_001365121.1:p.Arg1322Leu
NM_001378193.1:c.3884G>T	NP_001365122.1:p.Arg1295Leu
NM_001378194.1:c.4082G>T	NP_001365123.1:p.Arg1361Leu
NM_001378195.1:c.4070G>T	NP_001365124.1:p.Arg1357Leu
NM_001378196.1:c.4070G>T	NP_001365125.1:p.Arg1357Leu
NM_001378197.1:c.4010G>T	NP_001365126.1:p.Arg1337Leu
NM_001378198.1:c.3965G>T	NP_001365127.1:p.Arg1322Leu
NM_001378199.1:c.3965G>T	NP_001365128.1:p.Arg1322Leu
NM_001378200.1:c.3944G>T	NP_001365129.1:p.Arg1315Leu
NM_001378201.1:c.3944G>T	NP_001365130.1:p.Arg1315Leu
NM_001378202.1:c.3887G>T	NP_001365131.1:p.Arg1296Leu
NM_001378203.1:c.3821-9711G>T	NP_001365132.1:n.3821-9711G>T
NM_001394212.1:c.4079G>T	NP_001381141.1:p.Arg1360Leu
NM_001394213.1:c.4091G>T	NP_001381142.1:p.Arg1364Leu
NM_001394214.1:c.3953G>T	NP_001381143.1:p.Arg1318Leu
NM_001395656.1:c.3896G>T MANE Select	NP_001382585.1:p.Arg1299Leu
NM_001395657.1:c.4079G>T	NP_001382586.1:p.Arg1360Leu