Canonical Allele Identifier: CA2649602
Gene: ATR HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142498619G>A , CM000665.2:g.142498619G>A GRCh38
NC_000003.11:g.142217461G>A , CM000665.1:g.142217461G>A GRCh37
NC_000003.10:g.143700151G>A NCBI36
NG_008951.1:g.85208C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000350721.9:c.5536C>T MANE Select ENSP00000343741.4:p.Arg1846Ter
ENST00000513291.2:n.720C>T
ENST00000653868.1:n.5565C>T
ENST00000656590.1:c.4326C>T
ENST00000661310.1:c.5344C>T ENSP00000499589.1:p.Arg1782Ter
ENST00000666943.1:n.1000C>T
ENST00000350721.8:c.5536C>T ENSP00000343741.4:p.Arg1846Ter
ENST00000507620.2:n.632C>T
ENST00000514393.5:n.219C>T
NM_001184.3:c.5536C>T NP_001175.2:p.Arg1846Ter
XM_011512924.1:c.5542C>T XP_011511226.1:p.Arg1848Ter
XM_011512925.1:c.5350C>T XP_011511227.1:p.Arg1784Ter
XM_011512926.1:c.5542C>T XP_011511228.1:p.Arg1848Ter
XM_011512927.1:c.5542C>T XP_011511229.1:p.Arg1848Ter
XR_924147.1:n.5631C>T
XR_924148.1:n.5631C>T
XR_924149.1:n.5631C>T
NM_001354579.1:c.5344C>T NP_001341508.1:p.Arg1782Ter
XR_001740179.2:n.5625C>T
XR_001740180.2:n.5631C>T
XR_001740181.2:n.5631C>T
XR_001740182.1:n.5631C>T
XR_002959543.1:n.5631C>T
XR_924148.2:n.5631C>T
NM_001184.4:c.5536C>T MANE Select NP_001175.2:p.Arg1846Ter
NM_001354579.2:c.5344C>T NP_001341508.1:p.Arg1782Ter