Canonical Allele Identifier: CA2497716

Gene: ROBO2

Linked Data

• dbSNP Id: rs267607015
• ExAC: 3:77671529 G / C
• gnomAD v2: 3-77671529-G-C
• gnomAD v4: 3-77622378-G-C
• MyVariant Identifiers: chr3:g.77671529G>C (hg19) ; chr3:g.77622378G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000332191.13:c.3718G>C	ENSP00000327536.9:p.Ala1240Pro
ENST00000471893.2:c.3892G>C	ENSP00000418190.2:p.Ala1298Pro
ENST00000475334.2:c.3787G>C	ENSP00000418446.2:p.Ala1263Pro
ENST00000490534.2:c.3706G>C	ENSP00000417471.2:p.Ala1236Pro
ENST00000696574.1:c.*649G>C	ENSP00000512729.1:n.*649G>C
ENST00000696593.1:c.3718G>C MANE Select	ENSP00000512738.1:p.Ala1240Pro
ENST00000696629.1:c.3892G>C	ENSP00000512766.1:p.Ala1298Pro
ENST00000696630.1:c.3892G>C	ENSP00000512767.1:p.Ala1298Pro
ENST00000696631.1:c.*2139G>C	ENSP00000512768.1:n.*2139G>C
ENST00000705983.1:c.3832G>C	ENSP00000516193.1:p.Ala1278Pro
ENST00000332191.12:c.3706G>C	ENSP00000327536.8:p.Ala1236Pro
ENST00000461745.5:c.3706G>C	ENSP00000417164.1:p.Ala1236Pro
ENST00000473767.5:c.*2150G>C	ENSP00000418117.1:n.*2150G>C
ENST00000475334.1:c.200G>C
ENST00000487694.7:c.3754G>C	ENSP00000417335.2:p.Ala1252Pro
ENST00000614793.4:c.3322G>C	ENSP00000480344.1:p.Ala1108Pro
NM_001128929.3:c.3754G>C	NP_001122401.1:p.Ala1252Pro
NM_001290039.1:c.3718G>C	NP_001276968.1:p.Ala1240Pro
NM_001290040.1:c.3718G>C	NP_001276969.1:p.Ala1240Pro
NM_001290065.1:c.1927G>C	NP_001276994.1:p.Ala643Pro
NM_002942.4:c.3706G>C	NP_002933.1:p.Ala1236Pro
XM_011533981.1:c.3913G>C	XP_011532283.1:p.Ala1305Pro
XM_011533982.1:c.3787G>C	XP_011532284.1:p.Ala1263Pro
XM_011533983.1:c.3913G>C	XP_011532285.1:p.Ala1305Pro
XM_011533984.1:c.3913G>C	XP_011532286.1:p.Ala1305Pro
XM_011533985.1:c.3787G>C	XP_011532287.1:p.Ala1263Pro
XM_011533981.2:c.3913G>C	XP_011532283.1:p.Ala1305Pro
XM_017006986.1:c.3844G>C	XP_016862475.1:p.Ala1282Pro
XM_017006987.1:c.3778G>C	XP_016862476.1:p.Ala1260Pro
XM_017006988.1:c.3913G>C	XP_016862477.1:p.Ala1305Pro
XM_017006989.1:c.3901G>C	XP_016862478.1:p.Ala1301Pro
XM_017006990.1:c.3892G>C	XP_016862479.1:p.Ala1298Pro
XM_017006991.1:c.3787G>C	XP_016862480.1:p.Ala1263Pro
XM_017006992.1:c.3766G>C	XP_016862481.1:p.Ala1256Pro
XM_017006993.1:c.3706G>C	XP_016862482.1:p.Ala1236Pro
XM_017006994.1:c.3913G>C	XP_016862483.1:p.Ala1305Pro
XM_017006995.1:c.3904G>C	XP_016862484.1:p.Ala1302Pro
XM_017006996.1:c.3892G>C	XP_016862485.1:p.Ala1298Pro
XM_017006997.1:c.3892G>C	XP_016862486.1:p.Ala1298Pro
XM_017006998.1:c.3844G>C	XP_016862487.1:p.Ala1282Pro
XM_017006999.1:c.3844G>C	XP_016862488.1:p.Ala1282Pro
XM_017007000.1:c.3832G>C	XP_016862489.1:p.Ala1278Pro
XM_017007001.1:c.3787G>C	XP_016862490.1:p.Ala1263Pro
XM_017007002.1:c.3778G>C	XP_016862491.1:p.Ala1260Pro
XM_017007003.1:c.3775G>C	XP_016862492.1:p.Ala1259Pro
XM_017007004.1:c.3766G>C	XP_016862493.1:p.Ala1256Pro
XM_017007005.1:c.3766G>C	XP_016862494.1:p.Ala1256Pro
XM_017007006.1:c.3709G>C	XP_016862495.1:p.Ala1237Pro
NM_001290039.2:c.3718G>C	NP_001276968.1:p.Ala1240Pro
NM_001290040.2:c.3718G>C	NP_001276969.1:p.Ala1240Pro
NM_001290065.2:c.1927G>C	NP_001276994.1:p.Ala643Pro
NM_002942.5:c.3706G>C	NP_002933.1:p.Ala1236Pro
NM_001378190.1:c.3766G>C	NP_001365119.1:p.Ala1256Pro
NM_001378191.1:c.3892G>C	NP_001365120.1:p.Ala1298Pro
NM_001378192.1:c.3787G>C	NP_001365121.1:p.Ala1263Pro
NM_001378193.1:c.3706G>C	NP_001365122.1:p.Ala1236Pro
NM_001378194.1:c.3904G>C	NP_001365123.1:p.Ala1302Pro
NM_001378195.1:c.3892G>C	NP_001365124.1:p.Ala1298Pro
NM_001378196.1:c.3892G>C	NP_001365125.1:p.Ala1298Pro
NM_001378197.1:c.3832G>C	NP_001365126.1:p.Ala1278Pro
NM_001378198.1:c.3787G>C	NP_001365127.1:p.Ala1263Pro
NM_001378199.1:c.3787G>C	NP_001365128.1:p.Ala1263Pro
NM_001378200.1:c.3766G>C	NP_001365129.1:p.Ala1256Pro
NM_001378201.1:c.3766G>C	NP_001365130.1:p.Ala1256Pro
NM_001378202.1:c.3709G>C	NP_001365131.1:p.Ala1237Pro
NM_001378203.1:c.3766G>C	NP_001365132.1:p.Ala1256Pro
NM_001394212.1:c.3901G>C	NP_001381141.1:p.Ala1301Pro
NM_001394213.1:c.3913G>C	NP_001381142.1:p.Ala1305Pro
NM_001394214.1:c.3775G>C	NP_001381143.1:p.Ala1259Pro
NM_001395656.1:c.3718G>C MANE Select	NP_001382585.1:p.Ala1240Pro
NM_001395657.1:c.3901G>C	NP_001382586.1:p.Ala1301Pro