Canonical Allele Identifier: CA354805821

Gene: ATR

Linked Data

• dbSNP Id: rs2108280768
• gnomAD v4: 3-142470143-G-A
• MyVariant Identifiers: chr3:g.142188985G>A (hg19) ; chr3:g.142470143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470143G>A , CM000665.2:g.142470143G>A	GRCh38
NC_000003.11:g.142188985G>A , CM000665.1:g.142188985G>A	GRCh37
NC_000003.10:g.143671675G>A	NCBI36
NG_008951.1:g.113684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6262C>T MANE Select	ENSP00000343741.4:p.Pro2088Ser
ENST00000513291.2:n.1446C>T
ENST00000654170.1:n.1105C>T
ENST00000656590.1:c.5052C>T
ENST00000661310.1:c.6070C>T	ENSP00000499589.1:p.Pro2024Ser
ENST00000665483.1:n.117C>T
ENST00000666447.1:n.97C>T
ENST00000666943.1:n.1726C>T
ENST00000350721.8:c.6262C>T	ENSP00000343741.4:p.Pro2088Ser
NM_001184.3:c.6262C>T	NP_001175.2:p.Pro2088Ser
XM_011512924.1:c.6268C>T	XP_011511226.1:p.Pro2090Ser
XM_011512925.1:c.6076C>T	XP_011511227.1:p.Pro2026Ser
XR_924147.1:n.6357C>T
XR_924148.1:n.6357C>T
XR_924149.1:n.6236C>T
NM_001354579.1:c.6070C>T	NP_001341508.1:p.Pro2024Ser
XR_001740179.2:n.6351C>T
XR_001740180.2:n.6405C>T
XR_001740181.2:n.6284C>T
XR_001740182.1:n.6236C>T
XR_002959543.1:n.6461C>T
XR_924148.2:n.6357C>T
NM_001184.4:c.6262C>T MANE Select	NP_001175.2:p.Pro2088Ser
NM_001354579.2:c.6070C>T	NP_001341508.1:p.Pro2024Ser