Canonical Allele Identifier: CA2650766

Gene: ATR

Linked Data

• ClinVar Variation Id: 546281
• ClinVar RCV Id: RCV000658132 ; RCV003126896 ; RCV003126897
• dbSNP Id: rs368592452
• ExAC: 3:142281807 G / T
• gnomAD v2: 3-142281807-G-T
• gnomAD v3: 3-142562965-G-T
• gnomAD v4: 3-142562965-G-T
• MyVariant Identifiers: chr3:g.142281807G>T (hg19) ; chr3:g.142562965G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562965G>T , CM000665.2:g.142562965G>T	GRCh38
NC_000003.11:g.142281807G>T , CM000665.1:g.142281807G>T	GRCh37
NC_000003.10:g.143764497G>T	NCBI36
NG_008951.1:g.20862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.437C>A MANE Select	ENSP00000343741.4:p.Thr146Lys
ENST00000515149.3:c.293-1544C>A	ENSP00000425897.3:n.293-1544C>A
ENST00000653868.1:n.466C>A
ENST00000657914.1:n.2795C>A
ENST00000659195.1:n.2502C>A
ENST00000661310.1:c.437C>A	ENSP00000499589.1:p.Thr146Lys
ENST00000350721.8:c.437C>A	ENSP00000343741.4:p.Thr146Lys
ENST00000507148.1:c.293-617C>A	ENSP00000426595.1:n.293-617C>A
NM_001184.3:c.437C>A	NP_001175.2:p.Thr146Lys
XM_011512924.1:c.437C>A	XP_011511226.1:p.Thr146Lys
XM_011512925.1:c.437C>A	XP_011511227.1:p.Thr146Lys
XM_011512926.1:c.437C>A	XP_011511228.1:p.Thr146Lys
XM_011512927.1:c.437C>A	XP_011511229.1:p.Thr146Lys
XR_924147.1:n.526C>A
XR_924148.1:n.526C>A
XR_924149.1:n.526C>A
NM_001354579.1:c.437C>A	NP_001341508.1:p.Thr146Lys
XR_001740179.2:n.526C>A
XR_001740180.2:n.526C>A
XR_001740181.2:n.526C>A
XR_001740182.1:n.526C>A
XR_002959543.1:n.526C>A
XR_924148.2:n.526C>A
NM_001184.4:c.437C>A MANE Select	NP_001175.2:p.Thr146Lys
NM_001354579.2:c.437C>A	NP_001341508.1:p.Thr146Lys