Canonical Allele Identifier: CA354805529

Gene: ATR

Linked Data

• dbSNP Id: rs1268002547
• gnomAD v2: 3-142188936-C-T
• MyVariant Identifiers: chr3:g.142188936C>T (hg19) ; chr3:g.142470094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470094C>T , CM000665.2:g.142470094C>T	GRCh38
NC_000003.11:g.142188936C>T , CM000665.1:g.142188936C>T	GRCh37
NC_000003.10:g.143671626C>T	NCBI36
NG_008951.1:g.113733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000350721.9:c.6311G>A MANE Select	ENSP00000343741.4:p.Trp2104Ter
ENST00000513291.2:n.1495G>A
ENST00000654170.1:n.1154G>A
ENST00000656590.1:c.5101G>A
ENST00000661310.1:c.6119G>A	ENSP00000499589.1:p.Trp2040Ter
ENST00000665483.1:n.166G>A
ENST00000666447.1:n.146G>A
ENST00000666943.1:n.1775G>A
ENST00000350721.8:c.6311G>A	ENSP00000343741.4:p.Trp2104Ter
NM_001184.3:c.6311G>A	NP_001175.2:p.Trp2104Ter
XM_011512924.1:c.6317G>A	XP_011511226.1:p.Trp2106Ter
XM_011512925.1:c.6125G>A	XP_011511227.1:p.Trp2042Ter
XR_924147.1:n.6406G>A
XR_924148.1:n.6406G>A
XR_924149.1:n.6285G>A
NM_001354579.1:c.6119G>A	NP_001341508.1:p.Trp2040Ter
XR_001740179.2:n.6400G>A
XR_001740180.2:n.6454G>A
XR_001740181.2:n.6333G>A
XR_001740182.1:n.6285G>A
XR_002959543.1:n.6510G>A
XR_924148.2:n.6406G>A
NM_001184.4:c.6311G>A MANE Select	NP_001175.2:p.Trp2104Ter
NM_001354579.2:c.6119G>A	NP_001341508.1:p.Trp2040Ter