Canonical Allele Identifier: CA204197

Gene: DIP2A

Linked Data

• ClinVar Variation Id: 207922
• ClinVar RCV Id: RCV000190197
• dbSNP Id: rs768627699
• ExAC: 21:47969815 G / A
• gnomAD v2: 21-47969815-G-A
• gnomAD v3: 21-46549902-G-A
• gnomAD v4: 21-46549902-G-A
• MyVariant Identifiers: chr21:g.47969815G>A (hg19) ; chr21:g.46549902G>A (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46549902G>A , CM000683.2:g.46549902G>A	GRCh38
NC_000021.8:g.47969815G>A , CM000683.1:g.47969815G>A	GRCh37
NC_000021.7:g.46794243G>A	NCBI36
NG_015996.1:g.95954G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000417564.3:c.2637+17G>A MANE Select	ENSP00000392066.2:n.2637+17G>A
ENST00000651436.1:c.2637+17G>A	ENSP00000498874.1:n.2637+17G>A
ENST00000400274.5:c.2625+17G>A	ENSP00000383133.1:n.2625+17G>A
ENST00000417564.2:c.2637+17G>A	ENSP00000392066.2:n.2637+17G>A
ENST00000457905.7:c.2654G>A	ENSP00000393434.3:p.Arg885Gln
NM_001146116.1:c.2625+17G>A	NP_001139588.1:n.2625+17G>A
NM_015151.3:c.2637+17G>A	NP_055966.2:n.2637+17G>A
NM_206889.2:c.2654G>A	NP_996772.1:p.Arg885Gln
XM_011529488.1:c.2745+17G>A	XP_011527790.1:n.2745+17G>A
XM_011529489.1:c.2745+17G>A	XP_011527791.1:n.2745+17G>A
XM_011529490.1:c.2745+17G>A	XP_011527792.1:n.2745+17G>A
XM_011529491.1:c.2742+17G>A	XP_011527793.1:n.2742+17G>A
XM_011529492.1:c.2745+17G>A	XP_011527794.1:n.2745+17G>A
XM_011529493.1:c.2640+17G>A	XP_011527795.1:n.2640+17G>A
XM_011529494.1:c.2637+17G>A	XP_011527796.1:n.2637+17G>A
XM_011529495.1:c.2613+17G>A	XP_011527797.1:n.2613+17G>A
XM_011529496.1:c.2490+17G>A	XP_011527798.1:n.2490+17G>A
XM_011529497.1:c.2745+17G>A	XP_011527799.1:n.2745+17G>A
XM_011529498.1:c.2745+17G>A	XP_011527800.1:n.2745+17G>A
XM_011529499.1:c.2745+17G>A	XP_011527801.1:n.2745+17G>A
XM_011529500.1:c.2745+17G>A	XP_011527802.1:n.2745+17G>A
XM_011529501.1:c.2745+17G>A	XP_011527803.1:n.2745+17G>A
XM_011529502.1:c.*112G>A	XP_011527804.1:n.*112G>A
NM_001353942.1:c.2640+17G>A	NP_001340871.1:n.2640+17G>A
NM_001353943.1:c.2637+17G>A	NP_001340872.1:n.2637+17G>A
XM_011529492.2:c.2745+17G>A	XP_011527794.1:n.2745+17G>A
XM_017028291.1:c.2745+17G>A	XP_016883780.1:n.2745+17G>A
XM_017028292.1:c.2745+17G>A	XP_016883781.1:n.2745+17G>A
XM_017028293.1:c.2742+17G>A	XP_016883782.1:n.2742+17G>A
XM_017028294.2:c.2640+17G>A	XP_016883783.1:n.2640+17G>A
XM_017028295.2:c.2637+17G>A	XP_016883784.1:n.2637+17G>A
XM_017028297.1:c.2613+17G>A	XP_016883786.1:n.2613+17G>A
XM_017028298.2:c.2508+17G>A	XP_016883787.1:n.2508+17G>A
XM_017028299.1:c.2490+17G>A	XP_016883788.1:n.2490+17G>A
XM_017028300.1:c.2745+17G>A	XP_016883789.1:n.2745+17G>A
XM_017028301.1:c.2745+17G>A	XP_016883790.1:n.2745+17G>A
XM_017028302.2:c.2385+17G>A	XP_016883791.1:n.2385+17G>A
XM_017028303.1:c.2745+17G>A	XP_016883792.1:n.2745+17G>A
XM_017028304.1:c.2745+17G>A	XP_016883793.1:n.2745+17G>A
XM_017028305.1:c.*95+17G>A	XP_016883794.1:n.*95+17G>A
NM_015151.4:c.2637+17G>A MANE Select	NP_055966.2:n.2637+17G>A
NM_206889.3:c.2654G>A	NP_996772.1:p.Arg885Gln
NM_001146116.2:c.2625+17G>A	NP_001139588.1:n.2625+17G>A
NM_001353942.2:c.2640+17G>A	NP_001340871.1:n.2640+17G>A
NM_001353943.2:c.2637+17G>A	NP_001340872.1:n.2637+17G>A