Canonical Allele Identifier: CA410583937

Gene: DIP2A

Linked Data

• MyVariant Identifiers: chr21:g.47969748C>G (hg19) ; chr21:g.46549835C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46549835C>G , CM000683.2:g.46549835C>G	GRCh38
NC_000021.8:g.47969748C>G , CM000683.1:g.47969748C>G	GRCh37
NC_000021.7:g.46794176C>G	NCBI36
NG_015996.1:g.95887C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417564.3:c.2587C>G MANE Select	ENSP00000392066.2:p.Pro863Ala
ENST00000651436.1:c.2587C>G	ENSP00000498874.1:p.Pro863Ala
ENST00000400274.5:c.2575C>G	ENSP00000383133.1:p.Pro859Ala
ENST00000417564.2:c.2587C>G	ENSP00000392066.2:p.Pro863Ala
ENST00000457905.7:c.2587C>G	ENSP00000393434.3:p.Pro863Ala
NM_001146116.1:c.2575C>G	NP_001139588.1:p.Pro859Ala
NM_015151.3:c.2587C>G	NP_055966.2:p.Pro863Ala
NM_206889.2:c.2587C>G	NP_996772.1:p.Pro863Ala
XM_011529488.1:c.2695C>G	XP_011527790.1:p.Pro899Ala
XM_011529489.1:c.2695C>G	XP_011527791.1:p.Pro899Ala
XM_011529490.1:c.2695C>G	XP_011527792.1:p.Pro899Ala
XM_011529491.1:c.2692C>G	XP_011527793.1:p.Pro898Ala
XM_011529492.1:c.2695C>G	XP_011527794.1:p.Pro899Ala
XM_011529493.1:c.2590C>G	XP_011527795.1:p.Pro864Ala
XM_011529494.1:c.2587C>G	XP_011527796.1:p.Pro863Ala
XM_011529495.1:c.2563C>G	XP_011527797.1:p.Pro855Ala
XM_011529496.1:c.2440C>G	XP_011527798.1:p.Pro814Ala
XM_011529497.1:c.2695C>G	XP_011527799.1:p.Pro899Ala
XM_011529498.1:c.2695C>G	XP_011527800.1:p.Pro899Ala
XM_011529499.1:c.2695C>G	XP_011527801.1:p.Pro899Ala
XM_011529500.1:c.2695C>G	XP_011527802.1:p.Pro899Ala
XM_011529501.1:c.2695C>G	XP_011527803.1:p.Pro899Ala
XM_011529502.1:c.*45C>G	XP_011527804.1:n.*45C>G
NM_001353942.1:c.2590C>G	NP_001340871.1:p.Pro864Ala
NM_001353943.1:c.2587C>G	NP_001340872.1:p.Pro863Ala
XM_011529492.2:c.2695C>G	XP_011527794.1:p.Pro899Ala
XM_017028291.1:c.2695C>G	XP_016883780.1:p.Pro899Ala
XM_017028292.1:c.2695C>G	XP_016883781.1:p.Pro899Ala
XM_017028293.1:c.2692C>G	XP_016883782.1:p.Pro898Ala
XM_017028294.2:c.2590C>G	XP_016883783.1:p.Pro864Ala
XM_017028295.2:c.2587C>G	XP_016883784.1:p.Pro863Ala
XM_017028297.1:c.2563C>G	XP_016883786.1:p.Pro855Ala
XM_017028298.2:c.2458C>G	XP_016883787.1:p.Pro820Ala
XM_017028299.1:c.2440C>G	XP_016883788.1:p.Pro814Ala
XM_017028300.1:c.2695C>G	XP_016883789.1:p.Pro899Ala
XM_017028301.1:c.2695C>G	XP_016883790.1:p.Pro899Ala
XM_017028302.2:c.2335C>G	XP_016883791.1:p.Pro779Ala
XM_017028303.1:c.2695C>G	XP_016883792.1:p.Pro899Ala
XM_017028304.1:c.2695C>G	XP_016883793.1:p.Pro899Ala
XM_017028305.1:c.*45C>G	XP_016883794.1:n.*45C>G
NM_015151.4:c.2587C>G MANE Select	NP_055966.2:p.Pro863Ala
NM_206889.3:c.2587C>G	NP_996772.1:p.Pro863Ala
NM_001146116.2:c.2575C>G	NP_001139588.1:p.Pro859Ala
NM_001353942.2:c.2590C>G	NP_001340871.1:p.Pro864Ala
NM_001353943.2:c.2587C>G	NP_001340872.1:p.Pro863Ala