Canonical Allele Identifier: CA10616716
Gene: ROBO2 HGNC NCBI

Linked Data

ClinVar Variation Id: 346769
ClinVar RCV Id: RCV000310043
dbSNP Id: rs192514111
gnomAD v2: 3-77698824-T-C
gnomAD v3: 3-77649673-T-C
gnomAD v4: 3-77649673-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.77649673T>C , CM000665.2:g.77649673T>C GRCh38
NC_000003.11:g.77698824T>C , CM000665.1:g.77698824T>C GRCh37
NC_000003.10:g.77781514T>C NCBI36
NG_027734.1:g.1747980T>C
NG_027734.2:g.1747980T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696593.1:c.*3618T>C MANE Select ENSP00000512738.1:n.*3618T>C
ENST00000461745.5:c.*3618T>C ENSP00000417164.1:n.*3618T>C
ENST00000614793.4:c.7371T>C ENSP00000480344.1:n.7371T>C
NM_001128929.3:c.*3618T>C NP_001122401.1:n.*3618T>C
NM_001290039.1:c.*3618T>C NP_001276968.1:n.*3618T>C
NM_001290040.1:c.*3618T>C NP_001276969.1:n.*3618T>C
NM_001290065.1:c.*3618T>C NP_001276994.1:n.*3618T>C
NM_002942.4:c.*3618T>C NP_002933.1:n.*3618T>C
XM_011533981.2:c.*3615T>C XP_011532283.1:n.*3615T>C
XM_017006988.1:c.*3615T>C XP_016862477.1:n.*3615T>C
XM_017006994.1:c.*3615T>C XP_016862483.1:n.*3615T>C
XM_017006995.1:c.*3615T>C XP_016862484.1:n.*3615T>C
XM_017006997.1:c.*3615T>C XP_016862486.1:n.*3615T>C
XM_017006999.1:c.*3615T>C XP_016862488.1:n.*3615T>C
XM_017007001.1:c.*3615T>C XP_016862490.1:n.*3615T>C
XM_017007005.1:c.*3615T>C XP_016862494.1:n.*3615T>C
NM_001290039.2:c.*3618T>C NP_001276968.1:n.*3618T>C
NM_001290040.2:c.*3618T>C NP_001276969.1:n.*3618T>C
NM_001290065.2:c.*3618T>C NP_001276994.1:n.*3618T>C
NM_002942.5:c.*3618T>C NP_002933.1:n.*3618T>C
NM_001378190.1:c.*3618T>C NP_001365119.1:n.*3618T>C
NM_001378191.1:c.*3618T>C NP_001365120.1:n.*3618T>C
NM_001378192.1:c.*3618T>C NP_001365121.1:n.*3618T>C
NM_001378193.1:c.*3618T>C NP_001365122.1:n.*3618T>C
NM_001378194.1:c.*3615T>C NP_001365123.1:n.*3615T>C
NM_001378195.1:c.*3618T>C NP_001365124.1:n.*3618T>C
NM_001378196.1:c.*3615T>C NP_001365125.1:n.*3615T>C
NM_001378197.1:c.*3618T>C NP_001365126.1:n.*3618T>C
NM_001378198.1:c.*3618T>C NP_001365127.1:n.*3618T>C
NM_001378199.1:c.*3615T>C NP_001365128.1:n.*3615T>C
NM_001378200.1:c.*3618T>C NP_001365129.1:n.*3618T>C
NM_001378201.1:c.*3615T>C NP_001365130.1:n.*3615T>C
NM_001378202.1:c.*3618T>C NP_001365131.1:n.*3618T>C
NM_001378203.1:c.*3615T>C NP_001365132.1:n.*3615T>C
NM_001394212.1:c.*3618T>C NP_001381141.1:n.*3618T>C
NM_001394213.1:c.*3618T>C NP_001381142.1:n.*3618T>C
NM_001394214.1:c.*3618T>C NP_001381143.1:n.*3618T>C
NM_001395656.1:c.*3618T>C MANE Select NP_001382585.1:n.*3618T>C
NM_001395657.1:c.*3615T>C NP_001382586.1:n.*3615T>C