Canonical Allele Identifier: CA118637

Gene: ROBO2

Linked Data

• ClinVar Variation Id: 7104
• ClinVar RCV Id: RCV000007522 ; RCV001290231
• dbSNP Id: rs267607015
• ExAC: 3:77671529 G / A
• gnomAD v3: 3-77622378-G-A
• gnomAD v4: 3-77622378-G-A
• MyVariant Identifiers: chr3:g.77671529G>A (hg19) ; chr3:g.77622378G>A (hg38)
• PubMed: PMID:17357069

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.77622378G>A , CM000665.2:g.77622378G>A	GRCh38
NC_000003.11:g.77671529G>A , CM000665.1:g.77671529G>A	GRCh37
NC_000003.10:g.77754219G>A	NCBI36
NG_027734.1:g.1720685G>A
NG_027734.2:g.1720685G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000332191.13:c.3718G>A	ENSP00000327536.9:p.Ala1240Thr
ENST00000471893.2:c.3892G>A	ENSP00000418190.2:p.Ala1298Thr
ENST00000475334.2:c.3787G>A	ENSP00000418446.2:p.Ala1263Thr
ENST00000490534.2:c.3706G>A	ENSP00000417471.2:p.Ala1236Thr
ENST00000696574.1:c.*649G>A	ENSP00000512729.1:n.*649G>A
ENST00000696593.1:c.3718G>A MANE Select	ENSP00000512738.1:p.Ala1240Thr
ENST00000696629.1:c.3892G>A	ENSP00000512766.1:p.Ala1298Thr
ENST00000696630.1:c.3892G>A	ENSP00000512767.1:p.Ala1298Thr
ENST00000696631.1:c.*2139G>A	ENSP00000512768.1:n.*2139G>A
ENST00000705983.1:c.3832G>A	ENSP00000516193.1:p.Ala1278Thr
ENST00000332191.12:c.3706G>A	ENSP00000327536.8:p.Ala1236Thr
ENST00000461745.5:c.3706G>A	ENSP00000417164.1:p.Ala1236Thr
ENST00000473767.5:c.*2150G>A	ENSP00000418117.1:n.*2150G>A
ENST00000475334.1:c.200G>A
ENST00000487694.7:c.3754G>A	ENSP00000417335.2:p.Ala1252Thr
ENST00000614793.4:c.3322G>A	ENSP00000480344.1:p.Ala1108Thr
NM_001128929.3:c.3754G>A	NP_001122401.1:p.Ala1252Thr
NM_001290039.1:c.3718G>A	NP_001276968.1:p.Ala1240Thr
NM_001290040.1:c.3718G>A	NP_001276969.1:p.Ala1240Thr
NM_001290065.1:c.1927G>A	NP_001276994.1:p.Ala643Thr
NM_002942.4:c.3706G>A	NP_002933.1:p.Ala1236Thr
XM_011533981.1:c.3913G>A	XP_011532283.1:p.Ala1305Thr
XM_011533982.1:c.3787G>A	XP_011532284.1:p.Ala1263Thr
XM_011533983.1:c.3913G>A	XP_011532285.1:p.Ala1305Thr
XM_011533984.1:c.3913G>A	XP_011532286.1:p.Ala1305Thr
XM_011533985.1:c.3787G>A	XP_011532287.1:p.Ala1263Thr
XM_011533981.2:c.3913G>A	XP_011532283.1:p.Ala1305Thr
XM_017006986.1:c.3844G>A	XP_016862475.1:p.Ala1282Thr
XM_017006987.1:c.3778G>A	XP_016862476.1:p.Ala1260Thr
XM_017006988.1:c.3913G>A	XP_016862477.1:p.Ala1305Thr
XM_017006989.1:c.3901G>A	XP_016862478.1:p.Ala1301Thr
XM_017006990.1:c.3892G>A	XP_016862479.1:p.Ala1298Thr
XM_017006991.1:c.3787G>A	XP_016862480.1:p.Ala1263Thr
XM_017006992.1:c.3766G>A	XP_016862481.1:p.Ala1256Thr
XM_017006993.1:c.3706G>A	XP_016862482.1:p.Ala1236Thr
XM_017006994.1:c.3913G>A	XP_016862483.1:p.Ala1305Thr
XM_017006995.1:c.3904G>A	XP_016862484.1:p.Ala1302Thr
XM_017006996.1:c.3892G>A	XP_016862485.1:p.Ala1298Thr
XM_017006997.1:c.3892G>A	XP_016862486.1:p.Ala1298Thr
XM_017006998.1:c.3844G>A	XP_016862487.1:p.Ala1282Thr
XM_017006999.1:c.3844G>A	XP_016862488.1:p.Ala1282Thr
XM_017007000.1:c.3832G>A	XP_016862489.1:p.Ala1278Thr
XM_017007001.1:c.3787G>A	XP_016862490.1:p.Ala1263Thr
XM_017007002.1:c.3778G>A	XP_016862491.1:p.Ala1260Thr
XM_017007003.1:c.3775G>A	XP_016862492.1:p.Ala1259Thr
XM_017007004.1:c.3766G>A	XP_016862493.1:p.Ala1256Thr
XM_017007005.1:c.3766G>A	XP_016862494.1:p.Ala1256Thr
XM_017007006.1:c.3709G>A	XP_016862495.1:p.Ala1237Thr
NM_001290039.2:c.3718G>A	NP_001276968.1:p.Ala1240Thr
NM_001290040.2:c.3718G>A	NP_001276969.1:p.Ala1240Thr
NM_001290065.2:c.1927G>A	NP_001276994.1:p.Ala643Thr
NM_002942.5:c.3706G>A	NP_002933.1:p.Ala1236Thr
NM_001378190.1:c.3766G>A	NP_001365119.1:p.Ala1256Thr
NM_001378191.1:c.3892G>A	NP_001365120.1:p.Ala1298Thr
NM_001378192.1:c.3787G>A	NP_001365121.1:p.Ala1263Thr
NM_001378193.1:c.3706G>A	NP_001365122.1:p.Ala1236Thr
NM_001378194.1:c.3904G>A	NP_001365123.1:p.Ala1302Thr
NM_001378195.1:c.3892G>A	NP_001365124.1:p.Ala1298Thr
NM_001378196.1:c.3892G>A	NP_001365125.1:p.Ala1298Thr
NM_001378197.1:c.3832G>A	NP_001365126.1:p.Ala1278Thr
NM_001378198.1:c.3787G>A	NP_001365127.1:p.Ala1263Thr
NM_001378199.1:c.3787G>A	NP_001365128.1:p.Ala1263Thr
NM_001378200.1:c.3766G>A	NP_001365129.1:p.Ala1256Thr
NM_001378201.1:c.3766G>A	NP_001365130.1:p.Ala1256Thr
NM_001378202.1:c.3709G>A	NP_001365131.1:p.Ala1237Thr
NM_001378203.1:c.3766G>A	NP_001365132.1:p.Ala1256Thr
NM_001394212.1:c.3901G>A	NP_001381141.1:p.Ala1301Thr
NM_001394213.1:c.3913G>A	NP_001381142.1:p.Ala1305Thr
NM_001394214.1:c.3775G>A	NP_001381143.1:p.Ala1259Thr
NM_001395656.1:c.3718G>A MANE Select	NP_001382585.1:p.Ala1240Thr
NM_001395657.1:c.3901G>A	NP_001382586.1:p.Ala1301Thr