Canonical Allele Identifier: CA2650740

Gene: ATR

Linked Data

• ClinVar Variation Id: 1447751
• ClinVar RCV Id: RCV002011976 ; RCV002352638 ; RCV003126031 ; RCV003126032
• dbSNP Id: rs776894408
• ExAC: 3:142281597 A / G
• gnomAD v2: 3-142281597-A-G
• gnomAD v3: 3-142562755-A-G
• gnomAD v4: 3-142562755-A-G
• MyVariant Identifiers: chr3:g.142281597A>G (hg19) ; chr3:g.142562755A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562755A>G , CM000665.2:g.142562755A>G	GRCh38
NC_000003.11:g.142281597A>G , CM000665.1:g.142281597A>G	GRCh37
NC_000003.10:g.143764287A>G	NCBI36
NG_008951.1:g.21072T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.647T>C MANE Select	ENSP00000343741.4:p.Ile216Thr
ENST00000515149.3:c.293-1334T>C	ENSP00000425897.3:n.293-1334T>C
ENST00000653868.1:n.676T>C
ENST00000657914.1:n.3005T>C
ENST00000659195.1:n.2712T>C
ENST00000661310.1:c.647T>C	ENSP00000499589.1:p.Ile216Thr
ENST00000350721.8:c.647T>C	ENSP00000343741.4:p.Ile216Thr
ENST00000507148.1:c.293-407T>C	ENSP00000426595.1:n.293-407T>C
NM_001184.3:c.647T>C	NP_001175.2:p.Ile216Thr
XM_011512924.1:c.647T>C	XP_011511226.1:p.Ile216Thr
XM_011512925.1:c.647T>C	XP_011511227.1:p.Ile216Thr
XM_011512926.1:c.647T>C	XP_011511228.1:p.Ile216Thr
XM_011512927.1:c.647T>C	XP_011511229.1:p.Ile216Thr
XR_924147.1:n.736T>C
XR_924148.1:n.736T>C
XR_924149.1:n.736T>C
NM_001354579.1:c.647T>C	NP_001341508.1:p.Ile216Thr
XR_001740179.2:n.736T>C
XR_001740180.2:n.736T>C
XR_001740181.2:n.736T>C
XR_001740182.1:n.736T>C
XR_002959543.1:n.736T>C
XR_924148.2:n.736T>C
NM_001184.4:c.647T>C MANE Select	NP_001175.2:p.Ile216Thr
NM_001354579.2:c.647T>C	NP_001341508.1:p.Ile216Thr