Canonical Allele Identifier: CA2650299

Gene: ATR

Linked Data

• ClinVar Variation Id: 3221092
• ClinVar RCV Id: RCV004507948
• dbSNP Id: rs778859518
• ExAC: 3:142272226 T / A
• gnomAD v2: 3-142272226-T-A
• gnomAD v4: 3-142553384-T-A
• MyVariant Identifiers: chr3:g.142272226T>A (hg19) ; chr3:g.142553384T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553384T>A , CM000665.2:g.142553384T>A	GRCh38
NC_000003.11:g.142272226T>A , CM000665.1:g.142272226T>A	GRCh37
NC_000003.10:g.143754916T>A	NCBI36
NG_008951.1:g.30443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2648A>T MANE Select	ENSP00000343741.4:p.Asp883Val
ENST00000515149.3:c.*1422A>T	ENSP00000425897.3:n.*1422A>T
ENST00000653868.1:n.2677A>T
ENST00000656590.1:c.1438A>T
ENST00000659195.1:n.5523A>T
ENST00000661310.1:c.2456A>T	ENSP00000499589.1:p.Asp819Val
ENST00000350721.8:c.2648A>T	ENSP00000343741.4:p.Asp883Val
NM_001184.3:c.2648A>T	NP_001175.2:p.Asp883Val
XM_011512924.1:c.2648A>T	XP_011511226.1:p.Asp883Val
XM_011512925.1:c.2456A>T	XP_011511227.1:p.Asp819Val
XM_011512926.1:c.2648A>T	XP_011511228.1:p.Asp883Val
XM_011512927.1:c.2648A>T	XP_011511229.1:p.Asp883Val
XR_924147.1:n.2737A>T
XR_924148.1:n.2737A>T
XR_924149.1:n.2737A>T
NM_001354579.1:c.2456A>T	NP_001341508.1:p.Asp819Val
XR_001740179.2:n.2737A>T
XR_001740180.2:n.2737A>T
XR_001740181.2:n.2737A>T
XR_001740182.1:n.2737A>T
XR_002959543.1:n.2737A>T
XR_924148.2:n.2737A>T
NM_001184.4:c.2648A>T MANE Select	NP_001175.2:p.Asp883Val
NM_001354579.2:c.2456A>T	NP_001341508.1:p.Asp819Val