Canonical Allele Identifier: CA353533682

Gene: ROBO2

Linked Data

• ClinVar Variation Id: 2321626
• ClinVar RCV Id: RCV002915737
• dbSNP Id: rs771581041
• gnomAD v4: 3-77644833-G-T
• MyVariant Identifiers: chr3:g.77693984G>T (hg19) ; chr3:g.77644833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.77644833G>T , CM000665.2:g.77644833G>T	GRCh38
NC_000003.11:g.77693984G>T , CM000665.1:g.77693984G>T	GRCh37
NC_000003.10:g.77776674G>T	NCBI36
NG_027734.1:g.1743140G>T
NG_027734.2:g.1743140G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000332191.13:c.4259G>T	ENSP00000327536.9:p.Arg1420Leu
ENST00000471893.2:c.4250G>T	ENSP00000418190.2:p.Arg1417Leu
ENST00000475334.2:c.4145G>T	ENSP00000418446.2:p.Arg1382Leu
ENST00000490534.2:c.4337G>T	ENSP00000417471.2:p.Arg1446Leu
ENST00000696574.1:c.*1007G>T	ENSP00000512729.1:n.*1007G>T
ENST00000696593.1:c.4349G>T MANE Select	ENSP00000512738.1:p.Arg1450Leu
ENST00000696629.1:c.4250G>T	ENSP00000512766.1:p.Arg1417Leu
ENST00000696630.1:c.4523G>T	ENSP00000512767.1:p.Arg1508Leu
ENST00000696631.1:c.*2497G>T	ENSP00000512768.1:n.*2497G>T
ENST00000705983.1:c.4190G>T	ENSP00000516193.1:p.Arg1397Leu
ENST00000705984.1:c.605G>T	ENSP00000516194.1:p.Arg202Leu
ENST00000332191.12:c.4247G>T	ENSP00000327536.8:p.Arg1416Leu
ENST00000461745.5:c.4064G>T	ENSP00000417164.1:p.Arg1355Leu
ENST00000470802.1:n.6052G>T
ENST00000473767.5:c.*2508G>T	ENSP00000418117.1:n.*2508G>T
ENST00000475334.1:c.558G>T
ENST00000487694.7:c.4112G>T	ENSP00000417335.2:p.Arg1371Leu
ENST00000490534.1:c.522G>T
ENST00000614793.4:c.3680G>T	ENSP00000480344.1:p.Arg1227Leu
NM_001128929.3:c.4112G>T	NP_001122401.1:p.Arg1371Leu
NM_001290039.1:c.4076G>T	NP_001276968.1:p.Arg1359Leu
NM_001290040.1:c.4259G>T	NP_001276969.1:p.Arg1420Leu
NM_001290065.1:c.2285G>T	NP_001276994.1:p.Arg762Leu
NM_002942.4:c.4064G>T	NP_002933.1:p.Arg1355Leu
XM_011533981.1:c.4727G>T	XP_011532283.1:p.Arg1576Leu
XM_011533982.1:c.4601G>T	XP_011532284.1:p.Arg1534Leu
XM_011533983.1:c.4544G>T	XP_011532285.1:p.Arg1515Leu
XM_011533984.1:c.4271G>T	XP_011532286.1:p.Arg1424Leu
XM_011533985.1:c.4145G>T	XP_011532287.1:p.Arg1382Leu
XM_011533981.2:c.4727G>T	XP_011532283.1:p.Arg1576Leu
XM_017006986.1:c.4658G>T	XP_016862475.1:p.Arg1553Leu
XM_017006987.1:c.4592G>T	XP_016862476.1:p.Arg1531Leu
XM_017006988.1:c.4544G>T	XP_016862477.1:p.Arg1515Leu
XM_017006989.1:c.4532G>T	XP_016862478.1:p.Arg1511Leu
XM_017006990.1:c.4523G>T	XP_016862479.1:p.Arg1508Leu
XM_017006991.1:c.4418G>T	XP_016862480.1:p.Arg1473Leu
XM_017006992.1:c.4397G>T	XP_016862481.1:p.Arg1466Leu
XM_017006993.1:c.4337G>T	XP_016862482.1:p.Arg1446Leu
XM_017006994.1:c.4271G>T	XP_016862483.1:p.Arg1424Leu
XM_017006995.1:c.4262G>T	XP_016862484.1:p.Arg1421Leu
XM_017006996.1:c.4250G>T	XP_016862485.1:p.Arg1417Leu
XM_017006997.1:c.4250G>T	XP_016862486.1:p.Arg1417Leu
XM_017006998.1:c.4202G>T	XP_016862487.1:p.Arg1401Leu
XM_017006999.1:c.4202G>T	XP_016862488.1:p.Arg1401Leu
XM_017007000.1:c.4190G>T	XP_016862489.1:p.Arg1397Leu
XM_017007001.1:c.4145G>T	XP_016862490.1:p.Arg1382Leu
XM_017007002.1:c.4136G>T	XP_016862491.1:p.Arg1379Leu
XM_017007003.1:c.4133G>T	XP_016862492.1:p.Arg1378Leu
XM_017007004.1:c.4124G>T	XP_016862493.1:p.Arg1375Leu
XM_017007005.1:c.4124G>T	XP_016862494.1:p.Arg1375Leu
XM_017007006.1:c.4067G>T	XP_016862495.1:p.Arg1356Leu
NM_001290039.2:c.4076G>T	NP_001276968.1:p.Arg1359Leu
NM_001290040.2:c.4259G>T	NP_001276969.1:p.Arg1420Leu
NM_001290065.2:c.2285G>T	NP_001276994.1:p.Arg762Leu
NM_002942.5:c.4064G>T	NP_002933.1:p.Arg1355Leu
NM_001378190.1:c.4397G>T	NP_001365119.1:p.Arg1466Leu
NM_001378191.1:c.4523G>T	NP_001365120.1:p.Arg1508Leu
NM_001378192.1:c.4418G>T	NP_001365121.1:p.Arg1473Leu
NM_001378193.1:c.4337G>T	NP_001365122.1:p.Arg1446Leu
NM_001378194.1:c.4262G>T	NP_001365123.1:p.Arg1421Leu
NM_001378195.1:c.4250G>T	NP_001365124.1:p.Arg1417Leu
NM_001378196.1:c.4250G>T	NP_001365125.1:p.Arg1417Leu
NM_001378197.1:c.4190G>T	NP_001365126.1:p.Arg1397Leu
NM_001378198.1:c.4145G>T	NP_001365127.1:p.Arg1382Leu
NM_001378199.1:c.4145G>T	NP_001365128.1:p.Arg1382Leu
NM_001378200.1:c.4124G>T	NP_001365129.1:p.Arg1375Leu
NM_001378201.1:c.4124G>T	NP_001365130.1:p.Arg1375Leu
NM_001378202.1:c.4067G>T	NP_001365131.1:p.Arg1356Leu
NM_001378203.1:c.3950G>T	NP_001365132.1:p.Arg1317Leu
NM_001394212.1:c.4532G>T	NP_001381141.1:p.Arg1511Leu
NM_001394213.1:c.4271G>T	NP_001381142.1:p.Arg1424Leu
NM_001394214.1:c.4133G>T	NP_001381143.1:p.Arg1378Leu
NM_001395656.1:c.4349G>T MANE Select	NP_001382585.1:p.Arg1450Leu
NM_001395657.1:c.4259G>T	NP_001382586.1:p.Arg1420Leu