Canonical Allele Identifier: CA354793706

Gene: ATR

Linked Data

• ClinVar Variation Id: 2561363
• ClinVar RCV Id: RCV003301085
• dbSNP Id: rs2070730666
• MyVariant Identifiers: chr3:g.142168313G>C (hg19) ; chr3:g.142449471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449471G>C , CM000665.2:g.142449471G>C	GRCh38
NC_000003.11:g.142168313G>C , CM000665.1:g.142168313G>C	GRCh37
NC_000003.10:g.143651003G>C	NCBI36
NG_008951.1:g.134356C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7893C>G MANE Select	ENSP00000343741.4:p.Asn2631Lys
ENST00000513291.2:n.6602C>G
ENST00000653893.1:n.2751C>G
ENST00000654170.1:n.2736C>G
ENST00000656114.1:n.2979C>G
ENST00000656590.1:c.6820C>G
ENST00000658083.1:n.3073C>G
ENST00000661310.1:c.7701C>G	ENSP00000499589.1:p.Asn2567Lys
ENST00000665483.1:n.5433C>G
ENST00000666447.1:n.4396C>G
ENST00000666943.1:n.4625C>G
ENST00000350721.8:c.7893C>G	ENSP00000343741.4:p.Asn2631Lys
ENST00000504521.5:c.482C>G	ENSP00000422553.1:n.482C>G
ENST00000513291.1:c.4957C>G
ENST00000515810.1:c.319C>G	ENSP00000421870.1:n.319C>G
NM_001184.3:c.7893C>G	NP_001175.2:p.Asn2631Lys
XM_011512924.1:c.7899C>G	XP_011511226.1:p.Asn2633Lys
XM_011512925.1:c.7707C>G	XP_011511227.1:p.Asn2569Lys
XR_924147.1:n.10650C>G
XR_924148.1:n.8125C>G
NM_001354579.1:c.7701C>G	NP_001341508.1:p.Asn2567Lys
XR_001740179.2:n.8119C>G
XR_924148.2:n.8125C>G
NM_001184.4:c.7893C>G MANE Select	NP_001175.2:p.Asn2631Lys
NM_001354579.2:c.7701C>G	NP_001341508.1:p.Asn2567Lys