Canonical Allele Identifier: CA354805622

Gene: ATR

Linked Data

• dbSNP Id: rs1284540258
• gnomAD v2: 3-142188957-T-C
• gnomAD v4: 3-142470115-T-C
• MyVariant Identifiers: chr3:g.142188957T>C (hg19) ; chr3:g.142470115T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470115T>C , CM000665.2:g.142470115T>C	GRCh38
NC_000003.11:g.142188957T>C , CM000665.1:g.142188957T>C	GRCh37
NC_000003.10:g.143671647T>C	NCBI36
NG_008951.1:g.113712A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6290A>G MANE Select	ENSP00000343741.4:p.Tyr2097Cys
ENST00000513291.2:n.1474A>G
ENST00000654170.1:n.1133A>G
ENST00000656590.1:c.5080A>G
ENST00000661310.1:c.6098A>G	ENSP00000499589.1:p.Tyr2033Cys
ENST00000665483.1:n.145A>G
ENST00000666447.1:n.125A>G
ENST00000666943.1:n.1754A>G
ENST00000350721.8:c.6290A>G	ENSP00000343741.4:p.Tyr2097Cys
NM_001184.3:c.6290A>G	NP_001175.2:p.Tyr2097Cys
XM_011512924.1:c.6296A>G	XP_011511226.1:p.Tyr2099Cys
XM_011512925.1:c.6104A>G	XP_011511227.1:p.Tyr2035Cys
XR_924147.1:n.6385A>G
XR_924148.1:n.6385A>G
XR_924149.1:n.6264A>G
NM_001354579.1:c.6098A>G	NP_001341508.1:p.Tyr2033Cys
XR_001740179.2:n.6379A>G
XR_001740180.2:n.6433A>G
XR_001740181.2:n.6312A>G
XR_001740182.1:n.6264A>G
XR_002959543.1:n.6489A>G
XR_924148.2:n.6385A>G
NM_001184.4:c.6290A>G MANE Select	NP_001175.2:p.Tyr2097Cys
NM_001354579.2:c.6098A>G	NP_001341508.1:p.Tyr2033Cys