Canonical Allele Identifier: CA354806048

Gene: ATR

Linked Data

• ClinVar Variation Id: 2567839
• ClinVar RCV Id: RCV003311462
• MyVariant Identifiers: chr3:g.142189006G>T (hg19) ; chr3:g.142470164G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470164G>T , CM000665.2:g.142470164G>T	GRCh38
NC_000003.11:g.142189006G>T , CM000665.1:g.142189006G>T	GRCh37
NC_000003.10:g.143671696G>T	NCBI36
NG_008951.1:g.113663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6241C>A MANE Select	ENSP00000343741.4:p.Gln2081Lys
ENST00000513291.2:n.1425C>A
ENST00000654170.1:n.1084C>A
ENST00000656590.1:c.5031C>A
ENST00000661310.1:c.6049C>A	ENSP00000499589.1:p.Gln2017Lys
ENST00000665483.1:n.96C>A
ENST00000666447.1:n.76C>A
ENST00000666943.1:n.1705C>A
ENST00000350721.8:c.6241C>A	ENSP00000343741.4:p.Gln2081Lys
NM_001184.3:c.6241C>A	NP_001175.2:p.Gln2081Lys
XM_011512924.1:c.6247C>A	XP_011511226.1:p.Gln2083Lys
XM_011512925.1:c.6055C>A	XP_011511227.1:p.Gln2019Lys
XR_924147.1:n.6336C>A
XR_924148.1:n.6336C>A
XR_924149.1:n.6215C>A
NM_001354579.1:c.6049C>A	NP_001341508.1:p.Gln2017Lys
XR_001740179.2:n.6330C>A
XR_001740180.2:n.6384C>A
XR_001740181.2:n.6263C>A
XR_001740182.1:n.6215C>A
XR_002959543.1:n.6440C>A
XR_924148.2:n.6336C>A
NM_001184.4:c.6241C>A MANE Select	NP_001175.2:p.Gln2081Lys
NM_001354579.2:c.6049C>A	NP_001341508.1:p.Gln2017Lys