Canonical Allele Identifier: CA16043155

Gene: RBFOX2

Linked Data

• ClinVar Variation Id: 373382
• ClinVar RCV Id: RCV000414043
• dbSNP Id: rs1057518386
• MyVariant Identifiers: chr22:g.36157294G>A (hg19) ; chr22:g.35761247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.35761247G>A , CM000684.2:g.35761247G>A	GRCh38
NC_000022.10:g.36157294G>A , CM000684.1:g.36157294G>A	GRCh37
NC_000022.9:g.34487240G>A	NCBI36
NG_029628.1:g.272292C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695803.1:c.829C>T	ENSP00000512183.1:p.Pro277Ser
ENST00000695804.1:c.709C>T	ENSP00000512184.1:p.Pro237Ser
ENST00000695805.1:c.*240C>T	ENSP00000512185.1:n.*240C>T
ENST00000695806.1:c.*216C>T	ENSP00000512186.1:n.*216C>T
ENST00000695807.1:c.*159C>T	ENSP00000512187.1:n.*159C>T
ENST00000695854.1:c.919C>T MANE Select	ENSP00000512219.1:p.Pro307Ser
ENST00000438146.7:c.919C>T	ENSP00000413035.2:p.Pro307Ser
ENST00000262829.11:c.652C>T	ENSP00000262829.7:p.Pro218Ser
ENST00000359369.8:c.646C>T	ENSP00000352328.4:p.Pro216Ser
ENST00000397303.6:c.649C>T	ENSP00000380470.2:p.Pro217Ser
ENST00000405409.6:c.709C>T	ENSP00000384944.2:p.Pro237Ser
ENST00000414461.6:c.706C>T	ENSP00000407855.2:p.Pro236Ser
ENST00000416721.6:c.706C>T	ENSP00000405651.2:p.Pro236Ser
ENST00000438146.6:c.919C>T	ENSP00000413035.2:p.Pro307Ser
ENST00000449924.6:c.706C>T	ENSP00000391670.2:p.Pro236Ser
ENST00000473487.6:c.646C>T	ENSP00000475142.1:p.Pro216Ser
ENST00000495377.6:c.264C>T
NM_001031695.2:c.706C>T	NP_001026865.1:p.Pro236Ser
NM_001082576.1:c.706C>T	NP_001076045.1:p.Pro236Ser
NM_001082577.1:c.706C>T	NP_001076046.1:p.Pro236Ser
NM_001082578.1:c.919C>T	NP_001076047.1:p.Pro307Ser
NM_001082579.1:c.916C>T	NP_001076048.1:p.Pro306Ser
NM_014309.2:c.709C>T	NP_055124.1:p.Pro237Ser
XM_005261428.2:c.919C>T	XP_005261485.1:p.Pro307Ser
XM_005261429.2:c.916C>T	XP_005261486.1:p.Pro306Ser
XM_005261430.2:c.919C>T	XP_005261487.1:p.Pro307Ser
XM_005261431.2:c.919C>T	XP_005261488.1:p.Pro307Ser
XM_005261432.2:c.916C>T	XP_005261489.1:p.Pro306Ser
XM_005261433.2:c.919C>T	XP_005261490.1:p.Pro307Ser
XM_005261435.1:c.706C>T	XP_005261492.1:p.Pro236Ser
XM_005261437.1:c.709C>T	XP_005261494.1:p.Pro237Ser
XM_006724185.2:c.919C>T	XP_006724248.1:p.Pro307Ser
XM_006724186.2:c.916C>T	XP_006724249.1:p.Pro306Ser
XM_006724187.2:c.919C>T	XP_006724250.1:p.Pro307Ser
XM_006724188.2:c.919C>T	XP_006724251.1:p.Pro307Ser
XM_006724189.2:c.775C>T	XP_006724252.1:p.Pro259Ser
XM_006724190.1:c.772C>T	XP_006724253.1:p.Pro258Ser
XM_006724191.1:c.709C>T	XP_006724254.1:p.Pro237Ser
XM_006724192.2:c.697C>T	XP_006724255.1:p.Pro233Ser
XM_006724193.2:c.919C>T	XP_006724256.1:p.Pro307Ser
XM_006724194.1:c.646C>T	XP_006724257.1:p.Pro216Ser
XM_011530036.1:c.745C>T	XP_011528338.1:p.Pro249Ser
NM_001031695.3:c.706C>T	NP_001026865.1:p.Pro236Ser
NM_001082576.2:c.706C>T	NP_001076045.1:p.Pro236Ser
NM_001082577.2:c.706C>T	NP_001076046.1:p.Pro236Ser
NM_001082578.2:c.919C>T	NP_001076047.1:p.Pro307Ser
NM_001082579.2:c.916C>T	NP_001076048.1:p.Pro306Ser
NM_001349982.1:c.772C>T	NP_001336911.1:p.Pro258Ser
NM_001349983.1:c.706C>T	NP_001336912.1:p.Pro236Ser
NM_001349989.1:c.772C>T	NP_001336918.1:p.Pro258Ser
NM_001349990.1:c.772C>T	NP_001336919.1:p.Pro258Ser
NM_001349991.1:c.772C>T	NP_001336920.1:p.Pro258Ser
NM_001349992.1:c.772C>T	NP_001336921.1:p.Pro258Ser
NM_001349994.1:c.772C>T	NP_001336923.1:p.Pro258Ser
NM_001349995.1:c.679C>T	NP_001336924.1:p.Pro227Ser
NM_001349996.1:c.772C>T	NP_001336925.1:p.Pro258Ser
NM_001349997.1:c.709C>T	NP_001336926.1:p.Pro237Ser
NM_001349998.1:c.706C>T	NP_001336927.1:p.Pro236Ser
NM_001349999.1:c.919C>T	NP_001336928.1:p.Pro307Ser
NM_014309.3:c.709C>T	NP_055124.1:p.Pro237Ser
XM_006724189.3:c.775C>T	XP_006724252.1:p.Pro259Ser
XM_006724193.3:c.919C>T	XP_006724256.1:p.Pro307Ser
XM_006724194.2:c.646C>T	XP_006724257.1:p.Pro216Ser
XM_017028686.1:c.745C>T	XP_016884175.1:p.Pro249Ser
XM_017028687.2:c.841C>T	XP_016884176.1:p.Pro281Ser
XM_017028688.1:c.916C>T	XP_016884177.1:p.Pro306Ser
XM_017028690.1:c.727C>T	XP_016884179.1:p.Pro243Ser
XM_017028691.1:c.724C>T	XP_016884180.1:p.Pro242Ser
XM_017028693.1:c.709C>T	XP_016884182.1:p.Pro237Ser
XM_017028696.1:c.709C>T	XP_016884185.1:p.Pro237Ser
XM_017028697.1:c.646C>T	XP_016884186.1:p.Pro216Ser
XM_017028698.1:c.706C>T	XP_016884187.1:p.Pro236Ser
XM_024452188.1:c.838C>T	XP_024307956.1:p.Pro280Ser
XM_024452189.1:c.649C>T	XP_024307957.1:p.Pro217Ser
XM_024452190.1:c.649C>T	XP_024307958.1:p.Pro217Ser
XM_024452191.1:c.694C>T	XP_024307959.1:p.Pro232Ser
XM_024452192.1:c.646C>T	XP_024307960.1:p.Pro216Ser
NM_001082578.3:c.919C>T	NP_001076047.1:p.Pro307Ser
NM_001031695.4:c.706C>T	NP_001026865.1:p.Pro236Ser
NM_001082576.3:c.706C>T	NP_001076045.1:p.Pro236Ser
NM_001082577.3:c.706C>T	NP_001076046.1:p.Pro236Ser
NM_001349982.2:c.772C>T	NP_001336911.1:p.Pro258Ser
NM_001349983.2:c.706C>T	NP_001336912.1:p.Pro236Ser
NM_001349989.2:c.772C>T	NP_001336918.1:p.Pro258Ser
NM_001349990.2:c.772C>T	NP_001336919.1:p.Pro258Ser
NM_001349991.2:c.772C>T	NP_001336920.1:p.Pro258Ser
NM_001349992.2:c.772C>T	NP_001336921.1:p.Pro258Ser
NM_001349994.2:c.772C>T	NP_001336923.1:p.Pro258Ser
NM_001349995.2:c.679C>T	NP_001336924.1:p.Pro227Ser
NM_001349996.2:c.772C>T	NP_001336925.1:p.Pro258Ser
NM_001349997.2:c.709C>T	NP_001336926.1:p.Pro237Ser
NM_001349998.2:c.706C>T	NP_001336927.1:p.Pro236Ser
NM_014309.4:c.709C>T	NP_055124.1:p.Pro237Ser
NM_001082578.4:c.919C>T	NP_001076047.2:p.Pro307Ser
NM_001082579.3:c.916C>T	NP_001076048.2:p.Pro306Ser
NM_001349999.2:c.919C>T MANE Select	NP_001336928.2:p.Pro307Ser
NM_001394108.1:c.913C>T	NP_001381037.1:p.Pro305Ser
NM_001394109.1:c.823C>T	NP_001381038.1:p.Pro275Ser
NM_001394110.1:c.823C>T	NP_001381039.1:p.Pro275Ser
NM_001394111.1:c.823C>T	NP_001381040.1:p.Pro275Ser
NM_001394112.1:c.916C>T	NP_001381041.1:p.Pro306Ser
NM_001394113.1:c.916C>T	NP_001381042.1:p.Pro306Ser
NM_001394114.1:c.919C>T	NP_001381043.1:p.Pro307Ser
NM_001394115.1:c.916C>T	NP_001381044.1:p.Pro306Ser