Canonical Allele Identifier: CA5735937
Community Standard Title: NM_001329.4(CTBP2):c.349G>A (p.Gly117Ser)
Gene: CTBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.125002969C>T , CM000672.2:g.125002969C>T GRCh38
NC_000010.10:g.126691538C>T , CM000672.1:g.126691538C>T GRCh37
NC_000010.9:g.126681528C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001329.4:c.349G>A MANE Select NP_001320.1:p.Gly117Ser
NM_001083914.1:c.349G>A NP_001077383.1:p.Gly117Ser
NM_001083914.2:c.349G>A NP_001077383.1:p.Gly117Ser
NM_001083914.3:c.349G>A NP_001077383.1:p.Gly117Ser
NM_001290214.1:c.349G>A NP_001277143.1:p.Gly117Ser
NM_001290214.2:c.349G>A NP_001277143.1:p.Gly117Ser
NM_001290214.3:c.349G>A NP_001277143.1:p.Gly117Ser
NM_001290215.1:c.349G>A NP_001277144.1:p.Gly117Ser
NM_001290215.2:c.349G>A NP_001277144.1:p.Gly117Ser
NM_001290215.3:c.349G>A NP_001277144.1:p.Gly117Ser
NM_001321012.1:c.349G>A NP_001307941.1:p.Gly117Ser
NM_001321012.2:c.349G>A NP_001307941.1:p.Gly117Ser
NM_001321013.1:c.349G>A NP_001307942.1:p.Gly117Ser
NM_001321013.2:c.349G>A NP_001307942.1:p.Gly117Ser
NM_001321014.1:c.349G>A NP_001307943.1:p.Gly117Ser
NM_001321014.2:c.349G>A NP_001307943.1:p.Gly117Ser
NM_001329.2:c.349G>A NP_001320.1:p.Gly117Ser
NM_001329.3:c.349G>A NP_001320.1:p.Gly117Ser
NM_001363508.1:c.553G>A NP_001350437.1:p.Gly185Ser
NM_001363508.2:c.553G>A NP_001350437.1:p.Gly185Ser
NM_022802.2:c.1969G>A NP_073713.2:p.Gly657Ser
NM_022802.3:c.1969G>A NP_073713.2:p.Gly657Ser
ENST00000309035.10:c.1969G>A ENSP00000311825.6:p.Gly657Ser
ENST00000309035.11:c.1969G>A ENSP00000311825.6:p.Gly657Ser
ENST00000334808.10:c.553G>A ENSP00000357816.5:p.Gly185Ser
ENST00000337195.10:c.349G>A ENSP00000338615.5:p.Gly117Ser
ENST00000337195.9:c.349G>A ENSP00000338615.5:p.Gly117Ser
ENST00000395705.3:c.32G>A
ENST00000411419.6:c.349G>A ENSP00000410474.2:p.Gly117Ser
ENST00000411419.7:c.349G>A ENSP00000410474.2:p.Gly117Ser
ENST00000486955.2:n.183G>A
ENST00000494626.6:c.349G>A ENSP00000436285.1:p.Gly117Ser
ENST00000531469.5:c.349G>A ENSP00000434630.1:p.Gly117Ser
XM_005269561.2:c.349G>A XP_005269618.1:p.Gly117Ser
XM_005269561.3:c.349G>A XP_005269618.1:p.Gly117Ser
XM_005269564.2:c.349G>A XP_005269621.1:p.Gly117Ser
XM_005269564.3:c.349G>A XP_005269621.1:p.Gly117Ser
XM_005269565.2:c.349G>A XP_005269622.1:p.Gly117Ser
XM_005269567.2:c.349G>A XP_005269624.1:p.Gly117Ser
XM_005269567.3:c.349G>A XP_005269624.1:p.Gly117Ser
XM_005269568.3:c.349G>A XP_005269625.1:p.Gly117Ser
XM_005269568.5:c.349G>A XP_005269625.1:p.Gly117Ser
XM_005269569.2:c.349G>A XP_005269626.1:p.Gly117Ser
XM_005269569.3:c.349G>A XP_005269626.1:p.Gly117Ser
XM_005269570.2:c.349G>A XP_005269627.1:p.Gly117Ser
XM_005269571.2:c.349G>A XP_005269628.1:p.Gly117Ser
XM_005269571.3:c.349G>A XP_005269628.1:p.Gly117Ser
XM_005269572.3:c.349G>A XP_005269629.1:p.Gly117Ser
XM_005269572.4:c.349G>A XP_005269629.1:p.Gly117Ser
XM_006717641.2:c.349G>A XP_006717704.1:p.Gly117Ser
XM_006717642.2:c.349G>A XP_006717705.1:p.Gly117Ser
XM_006717642.3:c.349G>A XP_006717705.1:p.Gly117Ser
XM_006717643.2:c.349G>A XP_006717706.1:p.Gly117Ser
XM_011539349.1:c.553G>A XP_011537651.1:p.Gly185Ser
XM_011539350.1:c.349G>A XP_011537652.1:p.Gly117Ser
XM_011539351.1:c.349G>A XP_011537653.1:p.Gly117Ser
XM_011539351.2:c.349G>A XP_011537653.1:p.Gly117Ser
XM_011539352.1:c.349G>A XP_011537654.1:p.Gly117Ser
XM_011539353.1:c.349G>A XP_011537655.1:p.Gly117Ser
XM_011539353.2:c.349G>A XP_011537655.1:p.Gly117Ser
XM_011539354.1:c.349G>A XP_011537656.1:p.Gly117Ser
XM_011539354.2:c.349G>A XP_011537656.1:p.Gly117Ser
XM_011539355.1:c.349G>A XP_011537657.1:p.Gly117Ser
XM_011539355.2:c.349G>A XP_011537657.1:p.Gly117Ser
XM_011539356.1:c.349G>A XP_011537658.1:p.Gly117Ser
XM_011539357.1:c.274G>A XP_011537659.1:p.Gly92Ser
XM_011539357.2:c.274G>A XP_011537659.1:p.Gly92Ser
XM_011539358.1:c.274G>A XP_011537660.1:p.Gly92Ser
XM_011539358.2:c.274G>A XP_011537660.1:p.Gly92Ser
XM_011539359.1:c.27G>A XP_011537661.1:p.Pro9=
XM_011539360.1:c.27G>A XP_011537662.1:p.Pro9=
XM_011539361.1:c.27G>A XP_011537663.1:p.Pro9=
XM_011539362.1:c.27G>A XP_011537664.1:p.Pro9=
XM_011539363.1:c.27G>A XP_011537665.1:p.Pro9=
XM_017015756.2:c.349G>A XP_016871245.1:p.Gly117Ser
XM_017015757.2:c.349G>A XP_016871246.1:p.Gly117Ser
XM_024447830.1:c.349G>A XP_024303598.1:p.Gly117Ser
XM_024447831.1:c.274G>A XP_024303599.1:p.Gly92Ser
XR_945609.1:n.887G>A