Canonical Allele Identifier: CA2649823

Gene: ATR

Linked Data

• ClinVar Variation Id: 2190000
• ClinVar RCV Id: RCV002611986
• dbSNP Id: rs755364026
• ExAC: 3:142232476 C / T
• gnomAD v2: 3-142232476-C-T
• gnomAD v3: 3-142513634-C-T
• gnomAD v4: 3-142513634-C-T
• COSMIC: COSM6411639
• MyVariant Identifiers: chr3:g.142232476C>T (hg19) ; chr3:g.142513634C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142513634C>T , CM000665.2:g.142513634C>T	GRCh38
NC_000003.11:g.142232476C>T , CM000665.1:g.142232476C>T	GRCh37
NC_000003.10:g.143715166C>T	NCBI36
NG_008951.1:g.70193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.4508G>A MANE Select	ENSP00000343741.4:p.Arg1503Gln
ENST00000653868.1:n.4537G>A
ENST00000656590.1:c.3298G>A
ENST00000661310.1:c.4316G>A	ENSP00000499589.1:p.Arg1439Gln
ENST00000350721.8:c.4508G>A	ENSP00000343741.4:p.Arg1503Gln
NM_001184.3:c.4508G>A	NP_001175.2:p.Arg1503Gln
XM_011512924.1:c.4514G>A	XP_011511226.1:p.Arg1505Gln
XM_011512925.1:c.4322G>A	XP_011511227.1:p.Arg1441Gln
XM_011512926.1:c.4514G>A	XP_011511228.1:p.Arg1505Gln
XM_011512927.1:c.4514G>A	XP_011511229.1:p.Arg1505Gln
XR_924147.1:n.4603G>A
XR_924148.1:n.4603G>A
XR_924149.1:n.4603G>A
NM_001354579.1:c.4316G>A	NP_001341508.1:p.Arg1439Gln
XR_001740179.2:n.4597G>A
XR_001740180.2:n.4603G>A
XR_001740181.2:n.4603G>A
XR_001740182.1:n.4603G>A
XR_002959543.1:n.4603G>A
XR_924148.2:n.4603G>A
NM_001184.4:c.4508G>A MANE Select	NP_001175.2:p.Arg1503Gln
NM_001354579.2:c.4316G>A	NP_001341508.1:p.Arg1439Gln