Canonical Allele Identifier: CA353527234

Gene: ROBO2

Linked Data

• gnomAD v4: 3-77602395-G-C
• MyVariant Identifiers: chr3:g.77651546G>C (hg19) ; chr3:g.77602395G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.77602395G>C , CM000665.2:g.77602395G>C	GRCh38
NC_000003.11:g.77651546G>C , CM000665.1:g.77651546G>C	GRCh37
NC_000003.10:g.77734236G>C	NCBI36
NG_027734.1:g.1700702G>C
NG_027734.2:g.1700702G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332191.13:c.3052G>C	ENSP00000327536.9:p.Asp1018His
ENST00000471893.2:c.3100G>C	ENSP00000418190.2:p.Asp1034His
ENST00000475334.2:c.3121G>C	ENSP00000418446.2:p.Asp1041His
ENST00000490534.2:c.3040G>C	ENSP00000417471.2:p.Asp1014His
ENST00000696574.1:c.3052G>C	ENSP00000512729.1:p.Asp1018His
ENST00000696593.1:c.3052G>C MANE Select	ENSP00000512738.1:p.Asp1018His
ENST00000696629.1:c.3100G>C	ENSP00000512766.1:p.Asp1034His
ENST00000696630.1:c.3100G>C	ENSP00000512767.1:p.Asp1034His
ENST00000696631.1:c.*1347G>C	ENSP00000512768.1:n.*1347G>C
ENST00000705983.1:c.3040G>C	ENSP00000516193.1:p.Asp1014His
ENST00000332191.12:c.3040G>C	ENSP00000327536.8:p.Asp1014His
ENST00000461745.5:c.3040G>C	ENSP00000417164.1:p.Asp1014His
ENST00000471893.1:c.263G>C
ENST00000473767.5:c.*1484G>C	ENSP00000418117.1:n.*1484G>C
ENST00000487694.7:c.3088G>C	ENSP00000417335.2:p.Asp1030His
ENST00000490991.5:c.510G>C
ENST00000602589.5:c.3100G>C	ENSP00000473268.1:p.Asp1034His
ENST00000614793.4:c.2656G>C	ENSP00000480344.1:p.Asp886His
NM_001128929.3:c.3088G>C	NP_001122401.1:p.Asp1030His
NM_001290039.1:c.3052G>C	NP_001276968.1:p.Asp1018His
NM_001290040.1:c.3052G>C	NP_001276969.1:p.Asp1018His
NM_001290065.1:c.1261G>C	NP_001276994.1:p.Asp421His
NM_002942.4:c.3040G>C	NP_002933.1:p.Asp1014His
XM_011533981.1:c.3121G>C	XP_011532283.1:p.Asp1041His
XM_011533982.1:c.3121G>C	XP_011532284.1:p.Asp1041His
XM_011533983.1:c.3121G>C	XP_011532285.1:p.Asp1041His
XM_011533984.1:c.3121G>C	XP_011532286.1:p.Asp1041His
XM_011533985.1:c.3121G>C	XP_011532287.1:p.Asp1041His
XM_011533981.2:c.3121G>C	XP_011532283.1:p.Asp1041His
XM_017006986.1:c.3052G>C	XP_016862475.1:p.Asp1018His
XM_017006987.1:c.3121G>C	XP_016862476.1:p.Asp1041His
XM_017006988.1:c.3121G>C	XP_016862477.1:p.Asp1041His
XM_017006989.1:c.3109G>C	XP_016862478.1:p.Asp1037His
XM_017006990.1:c.3100G>C	XP_016862479.1:p.Asp1034His
XM_017006991.1:c.3121G>C	XP_016862480.1:p.Asp1041His
XM_017006992.1:c.3100G>C	XP_016862481.1:p.Asp1034His
XM_017006993.1:c.3040G>C	XP_016862482.1:p.Asp1014His
XM_017006994.1:c.3121G>C	XP_016862483.1:p.Asp1041His
XM_017006995.1:c.3121G>C	XP_016862484.1:p.Asp1041His
XM_017006996.1:c.3100G>C	XP_016862485.1:p.Asp1034His
XM_017006997.1:c.3100G>C	XP_016862486.1:p.Asp1034His
XM_017006998.1:c.3052G>C	XP_016862487.1:p.Asp1018His
XM_017006999.1:c.3052G>C	XP_016862488.1:p.Asp1018His
XM_017007000.1:c.3040G>C	XP_016862489.1:p.Asp1014His
XM_017007001.1:c.3121G>C	XP_016862490.1:p.Asp1041His
XM_017007002.1:c.3121G>C	XP_016862491.1:p.Asp1041His
XM_017007003.1:c.3109G>C	XP_016862492.1:p.Asp1037His
XM_017007004.1:c.3100G>C	XP_016862493.1:p.Asp1034His
XM_017007005.1:c.3100G>C	XP_016862494.1:p.Asp1034His
XM_017007006.1:c.3052G>C	XP_016862495.1:p.Asp1018His
NM_001290039.2:c.3052G>C	NP_001276968.1:p.Asp1018His
NM_001290040.2:c.3052G>C	NP_001276969.1:p.Asp1018His
NM_001290065.2:c.1261G>C	NP_001276994.1:p.Asp421His
NM_002942.5:c.3040G>C	NP_002933.1:p.Asp1014His
NM_001378190.1:c.3100G>C	NP_001365119.1:p.Asp1034His
NM_001378191.1:c.3100G>C	NP_001365120.1:p.Asp1034His
NM_001378192.1:c.3121G>C	NP_001365121.1:p.Asp1041His
NM_001378193.1:c.3040G>C	NP_001365122.1:p.Asp1014His
NM_001378194.1:c.3121G>C	NP_001365123.1:p.Asp1041His
NM_001378195.1:c.3100G>C	NP_001365124.1:p.Asp1034His
NM_001378196.1:c.3100G>C	NP_001365125.1:p.Asp1034His
NM_001378197.1:c.3040G>C	NP_001365126.1:p.Asp1014His
NM_001378198.1:c.3121G>C	NP_001365127.1:p.Asp1041His
NM_001378199.1:c.3121G>C	NP_001365128.1:p.Asp1041His
NM_001378200.1:c.3100G>C	NP_001365129.1:p.Asp1034His
NM_001378201.1:c.3100G>C	NP_001365130.1:p.Asp1034His
NM_001378202.1:c.3052G>C	NP_001365131.1:p.Asp1018His
NM_001378203.1:c.3100G>C	NP_001365132.1:p.Asp1034His
NM_001394212.1:c.3109G>C	NP_001381141.1:p.Asp1037His
NM_001394213.1:c.3121G>C	NP_001381142.1:p.Asp1041His
NM_001394214.1:c.3109G>C	NP_001381143.1:p.Asp1037His
NM_001395656.1:c.3052G>C MANE Select	NP_001382585.1:p.Asp1018His
NM_001395657.1:c.3109G>C	NP_001382586.1:p.Asp1037His