Canonical Allele Identifier: CA436107347

Gene: ATR

Linked Data

• ClinVar Variation Id: 1760608
• ClinVar RCV Id: RCV002409827
• dbSNP Id: rs2108242641
• MyVariant Identifiers: chr3:g.142168424G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449582G>A , CM000665.2:g.142449582G>A	GRCh38
NC_000003.11:g.142168424G>A , CM000665.1:g.142168424G>A	GRCh37
NC_000003.10:g.143651114G>A	NCBI36
NG_008951.1:g.134245C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7782C>T MANE Select	ENSP00000343741.4:p.Asp2594=
ENST00000513291.2:n.6491C>T
ENST00000653893.1:n.2640C>T
ENST00000654170.1:n.2625C>T
ENST00000656114.1:n.2868C>T
ENST00000656590.1:c.6709C>T
ENST00000658083.1:n.2962C>T
ENST00000661310.1:c.7590C>T	ENSP00000499589.1:p.Asp2530=
ENST00000665483.1:n.5322C>T
ENST00000666447.1:n.4285C>T
ENST00000666943.1:n.4514C>T
ENST00000350721.8:c.7782C>T	ENSP00000343741.4:p.Asp2594=
ENST00000504521.5:c.371C>T	ENSP00000422553.1:n.371C>T
ENST00000513291.1:c.4846C>T
ENST00000515810.1:c.208C>T	ENSP00000421870.1:n.208C>T
NM_001184.3:c.7782C>T	NP_001175.2:p.Asp2594=
XM_011512924.1:c.7788C>T	XP_011511226.1:p.Asp2596=
XM_011512925.1:c.7596C>T	XP_011511227.1:p.Asp2532=
XR_924147.1:n.10539C>T
XR_924148.1:n.8014C>T
NM_001354579.1:c.7590C>T	NP_001341508.1:p.Asp2530=
XR_001740179.2:n.8008C>T
XR_924148.2:n.8014C>T
NM_001184.4:c.7782C>T MANE Select	NP_001175.2:p.Asp2594=
NM_001354579.2:c.7590C>T	NP_001341508.1:p.Asp2530=