Canonical Allele Identifier: CA354806101

Gene: ATR

Linked Data

• ClinVar Variation Id: 1752351
• ClinVar RCV Id: RCV002366584
• gnomAD v4: 3-142470172-T-C
• MyVariant Identifiers: chr3:g.142189014T>C (hg19) ; chr3:g.142470172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470172T>C , CM000665.2:g.142470172T>C	GRCh38
NC_000003.11:g.142189014T>C , CM000665.1:g.142189014T>C	GRCh37
NC_000003.10:g.143671704T>C	NCBI36
NG_008951.1:g.113655A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6233A>G MANE Select	ENSP00000343741.4:p.Tyr2078Cys
ENST00000513291.2:n.1417A>G
ENST00000654170.1:n.1076A>G
ENST00000656590.1:c.5023A>G
ENST00000661310.1:c.6041A>G	ENSP00000499589.1:p.Tyr2014Cys
ENST00000665483.1:n.88A>G
ENST00000666447.1:n.68A>G
ENST00000666943.1:n.1697A>G
ENST00000350721.8:c.6233A>G	ENSP00000343741.4:p.Tyr2078Cys
NM_001184.3:c.6233A>G	NP_001175.2:p.Tyr2078Cys
XM_011512924.1:c.6239A>G	XP_011511226.1:p.Tyr2080Cys
XM_011512925.1:c.6047A>G	XP_011511227.1:p.Tyr2016Cys
XR_924147.1:n.6328A>G
XR_924148.1:n.6328A>G
XR_924149.1:n.6207A>G
NM_001354579.1:c.6041A>G	NP_001341508.1:p.Tyr2014Cys
XR_001740179.2:n.6322A>G
XR_001740180.2:n.6376A>G
XR_001740181.2:n.6255A>G
XR_001740182.1:n.6207A>G
XR_002959543.1:n.6432A>G
XR_924148.2:n.6328A>G
NM_001184.4:c.6233A>G MANE Select	NP_001175.2:p.Tyr2078Cys
NM_001354579.2:c.6041A>G	NP_001341508.1:p.Tyr2014Cys