Canonical Allele Identifier: CA411359308

Gene: RBFOX2

Linked Data

• dbSNP Id: rs1938738120
• gnomAD v3: 22-35761288-C-G
• gnomAD v4: 22-35761288-C-G
• MyVariant Identifiers: chr22:g.36157335C>G (hg19) ; chr22:g.35761288C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35761288C>G , CM000684.2:g.35761288C>G	GRCh38
NC_000022.10:g.36157335C>G , CM000684.1:g.36157335C>G	GRCh37
NC_000022.9:g.34487281C>G	NCBI36
NG_029628.1:g.272251G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695803.1:c.788G>C	ENSP00000512183.1:p.Ser263Thr
ENST00000695804.1:c.668G>C	ENSP00000512184.1:p.Ser223Thr
ENST00000695805.1:c.*199G>C	ENSP00000512185.1:n.*199G>C
ENST00000695806.1:c.*175G>C	ENSP00000512186.1:n.*175G>C
ENST00000695807.1:c.*118G>C	ENSP00000512187.1:n.*118G>C
ENST00000695854.1:c.878G>C MANE Select	ENSP00000512219.1:p.Ser293Thr
ENST00000438146.7:c.878G>C	ENSP00000413035.2:p.Ser293Thr
ENST00000262829.11:c.611G>C	ENSP00000262829.7:p.Ser204Thr
ENST00000359369.8:c.605G>C	ENSP00000352328.4:p.Ser202Thr
ENST00000397303.6:c.608G>C	ENSP00000380470.2:p.Ser203Thr
ENST00000405409.6:c.668G>C	ENSP00000384944.2:p.Ser223Thr
ENST00000414461.6:c.665G>C	ENSP00000407855.2:p.Ser222Thr
ENST00000416721.6:c.665G>C	ENSP00000405651.2:p.Ser222Thr
ENST00000438146.6:c.878G>C	ENSP00000413035.2:p.Ser293Thr
ENST00000449924.6:c.665G>C	ENSP00000391670.2:p.Ser222Thr
ENST00000473487.6:c.605G>C	ENSP00000475142.1:p.Ser202Thr
ENST00000495377.6:c.223G>C
NM_001031695.2:c.665G>C	NP_001026865.1:p.Ser222Thr
NM_001082576.1:c.665G>C	NP_001076045.1:p.Ser222Thr
NM_001082577.1:c.665G>C	NP_001076046.1:p.Ser222Thr
NM_001082578.1:c.878G>C	NP_001076047.1:p.Ser293Thr
NM_001082579.1:c.875G>C	NP_001076048.1:p.Ser292Thr
NM_014309.2:c.668G>C	NP_055124.1:p.Ser223Thr
XM_005261428.2:c.878G>C	XP_005261485.1:p.Ser293Thr
XM_005261429.2:c.875G>C	XP_005261486.1:p.Ser292Thr
XM_005261430.2:c.878G>C	XP_005261487.1:p.Ser293Thr
XM_005261431.2:c.878G>C	XP_005261488.1:p.Ser293Thr
XM_005261432.2:c.875G>C	XP_005261489.1:p.Ser292Thr
XM_005261433.2:c.878G>C	XP_005261490.1:p.Ser293Thr
XM_005261435.1:c.665G>C	XP_005261492.1:p.Ser222Thr
XM_005261437.1:c.668G>C	XP_005261494.1:p.Ser223Thr
XM_006724185.2:c.878G>C	XP_006724248.1:p.Ser293Thr
XM_006724186.2:c.875G>C	XP_006724249.1:p.Ser292Thr
XM_006724187.2:c.878G>C	XP_006724250.1:p.Ser293Thr
XM_006724188.2:c.878G>C	XP_006724251.1:p.Ser293Thr
XM_006724189.2:c.734G>C	XP_006724252.1:p.Ser245Thr
XM_006724190.1:c.731G>C	XP_006724253.1:p.Ser244Thr
XM_006724191.1:c.668G>C	XP_006724254.1:p.Ser223Thr
XM_006724192.2:c.656G>C	XP_006724255.1:p.Ser219Thr
XM_006724193.2:c.878G>C	XP_006724256.1:p.Ser293Thr
XM_006724194.1:c.605G>C	XP_006724257.1:p.Ser202Thr
XM_011530036.1:c.704G>C	XP_011528338.1:p.Ser235Thr
NM_001031695.3:c.665G>C	NP_001026865.1:p.Ser222Thr
NM_001082576.2:c.665G>C	NP_001076045.1:p.Ser222Thr
NM_001082577.2:c.665G>C	NP_001076046.1:p.Ser222Thr
NM_001082578.2:c.878G>C	NP_001076047.1:p.Ser293Thr
NM_001082579.2:c.875G>C	NP_001076048.1:p.Ser292Thr
NM_001349982.1:c.731G>C	NP_001336911.1:p.Ser244Thr
NM_001349983.1:c.665G>C	NP_001336912.1:p.Ser222Thr
NM_001349989.1:c.731G>C	NP_001336918.1:p.Ser244Thr
NM_001349990.1:c.731G>C	NP_001336919.1:p.Ser244Thr
NM_001349991.1:c.731G>C	NP_001336920.1:p.Ser244Thr
NM_001349992.1:c.731G>C	NP_001336921.1:p.Ser244Thr
NM_001349994.1:c.731G>C	NP_001336923.1:p.Ser244Thr
NM_001349995.1:c.638G>C	NP_001336924.1:p.Ser213Thr
NM_001349996.1:c.731G>C	NP_001336925.1:p.Ser244Thr
NM_001349997.1:c.668G>C	NP_001336926.1:p.Ser223Thr
NM_001349998.1:c.665G>C	NP_001336927.1:p.Ser222Thr
NM_001349999.1:c.878G>C	NP_001336928.1:p.Ser293Thr
NM_014309.3:c.668G>C	NP_055124.1:p.Ser223Thr
XM_006724189.3:c.734G>C	XP_006724252.1:p.Ser245Thr
XM_006724193.3:c.878G>C	XP_006724256.1:p.Ser293Thr
XM_006724194.2:c.605G>C	XP_006724257.1:p.Ser202Thr
XM_017028686.1:c.704G>C	XP_016884175.1:p.Ser235Thr
XM_017028687.2:c.800G>C	XP_016884176.1:p.Ser267Thr
XM_017028688.1:c.875G>C	XP_016884177.1:p.Ser292Thr
XM_017028690.1:c.686G>C	XP_016884179.1:p.Ser229Thr
XM_017028691.1:c.683G>C	XP_016884180.1:p.Ser228Thr
XM_017028693.1:c.668G>C	XP_016884182.1:p.Ser223Thr
XM_017028696.1:c.668G>C	XP_016884185.1:p.Ser223Thr
XM_017028697.1:c.605G>C	XP_016884186.1:p.Ser202Thr
XM_017028698.1:c.665G>C	XP_016884187.1:p.Ser222Thr
XM_024452188.1:c.797G>C	XP_024307956.1:p.Ser266Thr
XM_024452189.1:c.608G>C	XP_024307957.1:p.Ser203Thr
XM_024452190.1:c.608G>C	XP_024307958.1:p.Ser203Thr
XM_024452191.1:c.653G>C	XP_024307959.1:p.Ser218Thr
XM_024452192.1:c.605G>C	XP_024307960.1:p.Ser202Thr
NM_001082578.3:c.878G>C	NP_001076047.1:p.Ser293Thr
NM_001031695.4:c.665G>C	NP_001026865.1:p.Ser222Thr
NM_001082576.3:c.665G>C	NP_001076045.1:p.Ser222Thr
NM_001082577.3:c.665G>C	NP_001076046.1:p.Ser222Thr
NM_001349982.2:c.731G>C	NP_001336911.1:p.Ser244Thr
NM_001349983.2:c.665G>C	NP_001336912.1:p.Ser222Thr
NM_001349989.2:c.731G>C	NP_001336918.1:p.Ser244Thr
NM_001349990.2:c.731G>C	NP_001336919.1:p.Ser244Thr
NM_001349991.2:c.731G>C	NP_001336920.1:p.Ser244Thr
NM_001349992.2:c.731G>C	NP_001336921.1:p.Ser244Thr
NM_001349994.2:c.731G>C	NP_001336923.1:p.Ser244Thr
NM_001349995.2:c.638G>C	NP_001336924.1:p.Ser213Thr
NM_001349996.2:c.731G>C	NP_001336925.1:p.Ser244Thr
NM_001349997.2:c.668G>C	NP_001336926.1:p.Ser223Thr
NM_001349998.2:c.665G>C	NP_001336927.1:p.Ser222Thr
NM_014309.4:c.668G>C	NP_055124.1:p.Ser223Thr
NM_001082578.4:c.878G>C	NP_001076047.2:p.Ser293Thr
NM_001082579.3:c.875G>C	NP_001076048.2:p.Ser292Thr
NM_001349999.2:c.878G>C MANE Select	NP_001336928.2:p.Ser293Thr
NM_001394108.1:c.872G>C	NP_001381037.1:p.Ser291Thr
NM_001394109.1:c.782G>C	NP_001381038.1:p.Ser261Thr
NM_001394110.1:c.782G>C	NP_001381039.1:p.Ser261Thr
NM_001394111.1:c.782G>C	NP_001381040.1:p.Ser261Thr
NM_001394112.1:c.875G>C	NP_001381041.1:p.Ser292Thr
NM_001394113.1:c.875G>C	NP_001381042.1:p.Ser292Thr
NM_001394114.1:c.878G>C	NP_001381043.1:p.Ser293Thr
NM_001394115.1:c.875G>C	NP_001381044.1:p.Ser292Thr