Canonical Allele Identifier: CA2496688
Gene: ROBO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 224346
dbSNP Id: rs780623744
gnomAD v2: 3-77147438-C-T
gnomAD v3: 3-77098287-C-T
gnomAD v4: 3-77098287-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.77098287C>T , CM000665.2:g.77098287C>T GRCh38
NC_000003.11:g.77147438C>T , CM000665.1:g.77147438C>T GRCh37
NC_000003.10:g.77230128C>T NCBI36
NG_027734.1:g.1196594C>T
NG_027734.2:g.1196594C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000332191.13:c.335C>T ENSP00000327536.9:p.Ala112Val
ENST00000471893.2:c.383C>T ENSP00000418190.2:p.Ala128Val
ENST00000475334.2:c.404C>T ENSP00000418446.2:p.Ala135Val
ENST00000490534.2:c.335C>T ENSP00000417471.2:p.Ala112Val
ENST00000696574.1:c.335C>T ENSP00000512729.1:p.Ala112Val
ENST00000696593.1:c.335C>T MANE Select ENSP00000512738.1:p.Ala112Val
ENST00000696629.1:c.383C>T ENSP00000512766.1:p.Ala128Val
ENST00000696630.1:c.383C>T ENSP00000512767.1:p.Ala128Val
ENST00000696631.1:c.335C>T ENSP00000512768.1:p.Ala112Val
ENST00000705983.1:c.335C>T ENSP00000516193.1:p.Ala112Val
ENST00000332191.12:c.335C>T ENSP00000327536.8:p.Ala112Val
ENST00000461745.5:c.335C>T ENSP00000417164.1:p.Ala112Val
ENST00000473767.5:c.335C>T ENSP00000418117.1:p.Ala112Val
ENST00000487694.7:c.383C>T ENSP00000417335.2:p.Ala128Val
ENST00000602589.5:c.383C>T ENSP00000473268.1:p.Ala128Val
NM_001128929.3:c.383C>T NP_001122401.1:p.Ala128Val
NM_001290039.1:c.335C>T NP_001276968.1:p.Ala112Val
NM_001290040.1:c.335C>T NP_001276969.1:p.Ala112Val
NM_001290065.1:c.-1584C>T NP_001276994.1:n.-1584C>T
NM_002942.4:c.335C>T NP_002933.1:p.Ala112Val
XM_011533981.1:c.404C>T XP_011532283.1:p.Ala135Val
XM_011533982.1:c.404C>T XP_011532284.1:p.Ala135Val
XM_011533983.1:c.404C>T XP_011532285.1:p.Ala135Val
XM_011533984.1:c.404C>T XP_011532286.1:p.Ala135Val
XM_011533985.1:c.404C>T XP_011532287.1:p.Ala135Val
XM_011533981.2:c.404C>T XP_011532283.1:p.Ala135Val
XM_017006986.1:c.335C>T XP_016862475.1:p.Ala112Val
XM_017006987.1:c.404C>T XP_016862476.1:p.Ala135Val
XM_017006988.1:c.404C>T XP_016862477.1:p.Ala135Val
XM_017006989.1:c.404C>T XP_016862478.1:p.Ala135Val
XM_017006990.1:c.383C>T XP_016862479.1:p.Ala128Val
XM_017006991.1:c.404C>T XP_016862480.1:p.Ala135Val
XM_017006992.1:c.383C>T XP_016862481.1:p.Ala128Val
XM_017006993.1:c.335C>T XP_016862482.1:p.Ala112Val
XM_017006994.1:c.404C>T XP_016862483.1:p.Ala135Val
XM_017006995.1:c.404C>T XP_016862484.1:p.Ala135Val
XM_017006996.1:c.383C>T XP_016862485.1:p.Ala128Val
XM_017006997.1:c.383C>T XP_016862486.1:p.Ala128Val
XM_017006998.1:c.335C>T XP_016862487.1:p.Ala112Val
XM_017006999.1:c.335C>T XP_016862488.1:p.Ala112Val
XM_017007000.1:c.335C>T XP_016862489.1:p.Ala112Val
XM_017007001.1:c.404C>T XP_016862490.1:p.Ala135Val
XM_017007002.1:c.404C>T XP_016862491.1:p.Ala135Val
XM_017007003.1:c.404C>T XP_016862492.1:p.Ala135Val
XM_017007004.1:c.383C>T XP_016862493.1:p.Ala128Val
XM_017007005.1:c.383C>T XP_016862494.1:p.Ala128Val
XM_017007006.1:c.335C>T XP_016862495.1:p.Ala112Val
NM_001290039.2:c.335C>T NP_001276968.1:p.Ala112Val
NM_001290040.2:c.335C>T NP_001276969.1:p.Ala112Val
NM_001290065.2:c.-1584C>T NP_001276994.1:n.-1584C>T
NM_002942.5:c.335C>T NP_002933.1:p.Ala112Val
NM_001378190.1:c.383C>T NP_001365119.1:p.Ala128Val
NM_001378191.1:c.383C>T NP_001365120.1:p.Ala128Val
NM_001378192.1:c.404C>T NP_001365121.1:p.Ala135Val
NM_001378193.1:c.335C>T NP_001365122.1:p.Ala112Val
NM_001378194.1:c.404C>T NP_001365123.1:p.Ala135Val
NM_001378195.1:c.383C>T NP_001365124.1:p.Ala128Val
NM_001378196.1:c.383C>T NP_001365125.1:p.Ala128Val
NM_001378197.1:c.335C>T NP_001365126.1:p.Ala112Val
NM_001378198.1:c.404C>T NP_001365127.1:p.Ala135Val
NM_001378199.1:c.404C>T NP_001365128.1:p.Ala135Val
NM_001378200.1:c.383C>T NP_001365129.1:p.Ala128Val
NM_001378201.1:c.383C>T NP_001365130.1:p.Ala128Val
NM_001378202.1:c.335C>T NP_001365131.1:p.Ala112Val
NM_001378203.1:c.383C>T NP_001365132.1:p.Ala128Val
NM_001394212.1:c.404C>T NP_001381141.1:p.Ala135Val
NM_001394213.1:c.404C>T NP_001381142.1:p.Ala135Val
NM_001394214.1:c.404C>T NP_001381143.1:p.Ala135Val
NM_001395656.1:c.335C>T MANE Select NP_001382585.1:p.Ala112Val
NM_001395657.1:c.404C>T NP_001382586.1:p.Ala135Val