Canonical Allele Identifier: CA2649371

Gene: ATR

Linked Data

• ClinVar Variation Id: 1752753
• ClinVar RCV Id: RCV002368807 ; RCV003103287
• dbSNP Id: rs763775707
• ExAC: 3:142188941 A / G
• gnomAD v2: 3-142188941-A-G
• gnomAD v3: 3-142470099-A-G
• gnomAD v4: 3-142470099-A-G
• MyVariant Identifiers: chr3:g.142188941A>G (hg19) ; chr3:g.142470099A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470099A>G , CM000665.2:g.142470099A>G	GRCh38
NC_000003.11:g.142188941A>G , CM000665.1:g.142188941A>G	GRCh37
NC_000003.10:g.143671631A>G	NCBI36
NG_008951.1:g.113728T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.6306T>C MANE Select	ENSP00000343741.4:p.Tyr2102=
ENST00000513291.2:n.1490T>C
ENST00000654170.1:n.1149T>C
ENST00000656590.1:c.5096T>C
ENST00000661310.1:c.6114T>C	ENSP00000499589.1:p.Tyr2038=
ENST00000665483.1:n.161T>C
ENST00000666447.1:n.141T>C
ENST00000666943.1:n.1770T>C
ENST00000350721.8:c.6306T>C	ENSP00000343741.4:p.Tyr2102=
NM_001184.3:c.6306T>C	NP_001175.2:p.Tyr2102=
XM_011512924.1:c.6312T>C	XP_011511226.1:p.Tyr2104=
XM_011512925.1:c.6120T>C	XP_011511227.1:p.Tyr2040=
XR_924147.1:n.6401T>C
XR_924148.1:n.6401T>C
XR_924149.1:n.6280T>C
NM_001354579.1:c.6114T>C	NP_001341508.1:p.Tyr2038=
XR_001740179.2:n.6395T>C
XR_001740180.2:n.6449T>C
XR_001740181.2:n.6328T>C
XR_001740182.1:n.6280T>C
XR_002959543.1:n.6505T>C
XR_924148.2:n.6401T>C
NM_001184.4:c.6306T>C MANE Select	NP_001175.2:p.Tyr2102=
NM_001354579.2:c.6114T>C	NP_001341508.1:p.Tyr2038=