Canonical Allele Identifier: CA354793913

Gene: ATR

Linked Data

• dbSNP Id: rs2108242565
• gnomAD v4: 3-142449566-G-A
• MyVariant Identifiers: chr3:g.142168408G>A (hg19) ; chr3:g.142449566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142449566G>A , CM000665.2:g.142449566G>A	GRCh38
NC_000003.11:g.142168408G>A , CM000665.1:g.142168408G>A	GRCh37
NC_000003.10:g.143651098G>A	NCBI36
NG_008951.1:g.134261C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.7798C>T MANE Select	ENSP00000343741.4:p.Gln2600Ter
ENST00000513291.2:n.6507C>T
ENST00000653893.1:n.2656C>T
ENST00000654170.1:n.2641C>T
ENST00000656114.1:n.2884C>T
ENST00000656590.1:c.6725C>T
ENST00000658083.1:n.2978C>T
ENST00000661310.1:c.7606C>T	ENSP00000499589.1:p.Gln2536Ter
ENST00000665483.1:n.5338C>T
ENST00000666447.1:n.4301C>T
ENST00000666943.1:n.4530C>T
ENST00000350721.8:c.7798C>T	ENSP00000343741.4:p.Gln2600Ter
ENST00000504521.5:c.387C>T	ENSP00000422553.1:n.387C>T
ENST00000513291.1:c.4862C>T
ENST00000515810.1:c.224C>T	ENSP00000421870.1:n.224C>T
NM_001184.3:c.7798C>T	NP_001175.2:p.Gln2600Ter
XM_011512924.1:c.7804C>T	XP_011511226.1:p.Gln2602Ter
XM_011512925.1:c.7612C>T	XP_011511227.1:p.Gln2538Ter
XR_924147.1:n.10555C>T
XR_924148.1:n.8030C>T
NM_001354579.1:c.7606C>T	NP_001341508.1:p.Gln2536Ter
XR_001740179.2:n.8024C>T
XR_924148.2:n.8030C>T
NM_001184.4:c.7798C>T MANE Select	NP_001175.2:p.Gln2600Ter
NM_001354579.2:c.7606C>T	NP_001341508.1:p.Gln2536Ter