Canonical Allele Identifier: CA10081896

Gene: DIP2A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46511533C>T , CM000683.2:g.46511533C>T	GRCh38
NC_000021.8:g.47931446C>T , CM000683.1:g.47931446C>T	GRCh37
NC_000021.7:g.46755874C>T	NCBI36
NG_015996.1:g.57585C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015151.4:c.1021C>T MANE Select	NP_055966.2:p.Arg341Cys
ENST00000417564.3:c.1021C>T MANE Select	ENSP00000392066.2:p.Arg341Cys
NM_001146115.1:c.892C>T	NP_001139587.1:p.Arg298Cys
NM_001146115.2:c.892C>T	NP_001139587.1:p.Arg298Cys
NM_001146116.1:c.1009C>T	NP_001139588.1:p.Arg337Cys
NM_001146116.2:c.1009C>T	NP_001139588.1:p.Arg337Cys
NM_001353942.1:c.1024C>T	NP_001340871.1:p.Arg342Cys
NM_001353942.2:c.1024C>T	NP_001340871.1:p.Arg342Cys
NM_001353943.1:c.1021C>T	NP_001340872.1:p.Arg341Cys
NM_001353943.2:c.1021C>T	NP_001340872.1:p.Arg341Cys
NM_001353944.1:c.772C>T	NP_001340873.1:p.Arg258Cys
NM_001353944.2:c.772C>T	NP_001340873.1:p.Arg258Cys
NM_015151.3:c.1021C>T	NP_055966.2:p.Arg341Cys
NM_206889.2:c.1021C>T	NP_996772.1:p.Arg341Cys
NM_206889.3:c.1021C>T	NP_996772.1:p.Arg341Cys
NM_206890.2:c.1021C>T	NP_996773.1:p.Arg341Cys
NM_206890.3:c.1021C>T	NP_996773.1:p.Arg341Cys
NM_206891.2:c.1021C>T	NP_996774.1:p.Arg341Cys
NM_206891.3:c.1021C>T	NP_996774.1:p.Arg341Cys
ENST00000400274.5:c.1009C>T	ENSP00000383133.1:p.Arg337Cys
ENST00000417564.2:c.1021C>T	ENSP00000392066.2:p.Arg341Cys
ENST00000435722.7:c.1021C>T	ENSP00000415089.3:p.Arg341Cys
ENST00000457905.7:c.1021C>T	ENSP00000393434.3:p.Arg341Cys
ENST00000466639.5:c.892C>T	ENSP00000430249.1:p.Arg298Cys
ENST00000473752.5:n.414C>T
ENST00000494435.5:n.347C>T
ENST00000651436.1:c.1021C>T	ENSP00000498874.1:p.Arg341Cys
XM_011529488.1:c.1129C>T	XP_011527790.1:p.Arg377Cys
XM_011529489.1:c.1129C>T	XP_011527791.1:p.Arg377Cys
XM_011529490.1:c.1129C>T	XP_011527792.1:p.Arg377Cys
XM_011529491.1:c.1126C>T	XP_011527793.1:p.Arg376Cys
XM_011529492.1:c.1129C>T	XP_011527794.1:p.Arg377Cys
XM_011529492.2:c.1129C>T	XP_011527794.1:p.Arg377Cys
XM_011529493.1:c.1024C>T	XP_011527795.1:p.Arg342Cys
XM_011529494.1:c.1021C>T	XP_011527796.1:p.Arg341Cys
XM_011529495.1:c.997C>T	XP_011527797.1:p.Arg333Cys
XM_011529496.1:c.874C>T	XP_011527798.1:p.Arg292Cys
XM_011529497.1:c.1129C>T	XP_011527799.1:p.Arg377Cys
XM_011529498.1:c.1129C>T	XP_011527800.1:p.Arg377Cys
XM_011529499.1:c.1129C>T	XP_011527801.1:p.Arg377Cys
XM_011529500.1:c.1129C>T	XP_011527802.1:p.Arg377Cys
XM_011529501.1:c.1129C>T	XP_011527803.1:p.Arg377Cys
XM_011529502.1:c.1129C>T	XP_011527804.1:p.Arg377Cys
XM_011529503.1:c.1129C>T	XP_011527805.1:p.Arg377Cys
XM_017028291.1:c.1129C>T	XP_016883780.1:p.Arg377Cys
XM_017028292.1:c.1129C>T	XP_016883781.1:p.Arg377Cys
XM_017028293.1:c.1126C>T	XP_016883782.1:p.Arg376Cys
XM_017028294.2:c.1024C>T	XP_016883783.1:p.Arg342Cys
XM_017028295.2:c.1021C>T	XP_016883784.1:p.Arg341Cys
XM_017028297.1:c.997C>T	XP_016883786.1:p.Arg333Cys
XM_017028298.2:c.892C>T	XP_016883787.1:p.Arg298Cys
XM_017028299.1:c.874C>T	XP_016883788.1:p.Arg292Cys
XM_017028300.1:c.1129C>T	XP_016883789.1:p.Arg377Cys
XM_017028301.1:c.1129C>T	XP_016883790.1:p.Arg377Cys
XM_017028302.2:c.769C>T	XP_016883791.1:p.Arg257Cys
XM_017028303.1:c.1129C>T	XP_016883792.1:p.Arg377Cys
XM_017028304.1:c.1129C>T	XP_016883793.1:p.Arg377Cys
XM_017028305.1:c.1129C>T	XP_016883794.1:p.Arg377Cys