Canonical Allele Identifier: CA436125633

Gene: ATR

Linked Data

• ClinVar Variation Id: 1585912
• ClinVar RCV Id: RCV002097877
• dbSNP Id: rs2108278693
• MyVariant Identifiers: chr3:g.142188215A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142469373A>C , CM000665.2:g.142469373A>C	GRCh38
NC_000003.11:g.142188215A>C , CM000665.1:g.142188215A>C	GRCh37
NC_000003.10:g.143670905A>C	NCBI36
NG_008951.1:g.114454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6516T>G MANE Select	ENSP00000343741.4:p.Pro2172=
ENST00000513291.2:n.1700T>G
ENST00000654170.1:n.1359T>G
ENST00000656590.1:c.5306T>G
ENST00000661310.1:c.6324T>G	ENSP00000499589.1:p.Pro2108=
ENST00000665483.1:n.371T>G
ENST00000666447.1:n.351T>G
ENST00000666943.1:n.1980T>G
ENST00000350721.8:c.6516T>G	ENSP00000343741.4:p.Pro2172=
ENST00000513291.1:c.55T>G
NM_001184.3:c.6516T>G	NP_001175.2:p.Pro2172=
XM_011512924.1:c.6522T>G	XP_011511226.1:p.Pro2174=
XM_011512925.1:c.6330T>G	XP_011511227.1:p.Pro2110=
XR_924147.1:n.6611T>G
XR_924148.1:n.6611T>G
XR_924149.1:n.6490T>G
NM_001354579.1:c.6324T>G	NP_001341508.1:p.Pro2108=
XR_001740179.2:n.6605T>G
XR_924148.2:n.6611T>G
NM_001184.4:c.6516T>G MANE Select	NP_001175.2:p.Pro2172=
NM_001354579.2:c.6324T>G	NP_001341508.1:p.Pro2108=