Canonical Allele Identifier: CA2649028

Gene: ATR

Linked Data

• ClinVar Variation Id: 1760618
• ClinVar RCV Id: RCV002409837
• dbSNP Id: rs768358025
• ExAC: 3:142168420 C / T
• gnomAD v2: 3-142168420-C-T
• gnomAD v3: 3-142449578-C-T
• gnomAD v4: 3-142449578-C-T
• MyVariant Identifiers: chr3:g.142168420C>T (hg19) ; chr3:g.142449578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449578C>T , CM000665.2:g.142449578C>T	GRCh38
NC_000003.11:g.142168420C>T , CM000665.1:g.142168420C>T	GRCh37
NC_000003.10:g.143651110C>T	NCBI36
NG_008951.1:g.134249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7786G>A MANE Select	ENSP00000343741.4:p.Glu2596Lys
ENST00000513291.2:n.6495G>A
ENST00000653893.1:n.2644G>A
ENST00000654170.1:n.2629G>A
ENST00000656114.1:n.2872G>A
ENST00000656590.1:c.6713G>A
ENST00000658083.1:n.2966G>A
ENST00000661310.1:c.7594G>A	ENSP00000499589.1:p.Glu2532Lys
ENST00000665483.1:n.5326G>A
ENST00000666447.1:n.4289G>A
ENST00000666943.1:n.4518G>A
ENST00000350721.8:c.7786G>A	ENSP00000343741.4:p.Glu2596Lys
ENST00000504521.5:c.375G>A	ENSP00000422553.1:n.375G>A
ENST00000513291.1:c.4850G>A
ENST00000515810.1:c.212G>A	ENSP00000421870.1:n.212G>A
NM_001184.3:c.7786G>A	NP_001175.2:p.Glu2596Lys
XM_011512924.1:c.7792G>A	XP_011511226.1:p.Glu2598Lys
XM_011512925.1:c.7600G>A	XP_011511227.1:p.Glu2534Lys
XR_924147.1:n.10543G>A
XR_924148.1:n.8018G>A
NM_001354579.1:c.7594G>A	NP_001341508.1:p.Glu2532Lys
XR_001740179.2:n.8012G>A
XR_924148.2:n.8018G>A
NM_001184.4:c.7786G>A MANE Select	NP_001175.2:p.Glu2596Lys
NM_001354579.2:c.7594G>A	NP_001341508.1:p.Glu2532Lys