Canonical Allele Identifier: CA2650346

Gene: ATR

Linked Data

• ClinVar Variation Id: 1634913
• ClinVar RCV Id: RCV002142980
• dbSNP Id: rs762967315
• ExAC: 3:142272647 T / C
• gnomAD v2: 3-142272647-T-C
• gnomAD v3: 3-142553805-T-C
• gnomAD v4: 3-142553805-T-C
• MyVariant Identifiers: chr3:g.142272647T>C (hg19) ; chr3:g.142553805T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142553805T>C , CM000665.2:g.142553805T>C	GRCh38
NC_000003.11:g.142272647T>C , CM000665.1:g.142272647T>C	GRCh37
NC_000003.10:g.143755337T>C	NCBI36
NG_008951.1:g.30022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.2532+20A>G MANE Select	ENSP00000343741.4:n.2532+20A>G
ENST00000515149.3:c.*1306+20A>G	ENSP00000425897.3:n.*1306+20A>G
ENST00000653868.1:n.2561+20A>G
ENST00000656590.1:c.1322+20A>G
ENST00000659195.1:n.5407+20A>G
ENST00000661310.1:c.2340+20A>G	ENSP00000499589.1:n.2340+20A>G
ENST00000350721.8:c.2532+20A>G	ENSP00000343741.4:n.2532+20A>G
NM_001184.3:c.2532+20A>G	NP_001175.2:n.2532+20A>G
XM_011512924.1:c.2532+20A>G	XP_011511226.1:n.2532+20A>G
XM_011512925.1:c.2340+20A>G	XP_011511227.1:n.2340+20A>G
XM_011512926.1:c.2532+20A>G	XP_011511228.1:n.2532+20A>G
XM_011512927.1:c.2532+20A>G	XP_011511229.1:n.2532+20A>G
XR_924147.1:n.2621+20A>G
XR_924148.1:n.2621+20A>G
XR_924149.1:n.2621+20A>G
NM_001354579.1:c.2340+20A>G	NP_001341508.1:n.2340+20A>G
XR_001740179.2:n.2621+20A>G
XR_001740180.2:n.2621+20A>G
XR_001740181.2:n.2621+20A>G
XR_001740182.1:n.2621+20A>G
XR_002959543.1:n.2621+20A>G
XR_924148.2:n.2621+20A>G
NM_001184.4:c.2532+20A>G MANE Select	NP_001175.2:n.2532+20A>G
NM_001354579.2:c.2340+20A>G	NP_001341508.1:n.2340+20A>G