Canonical Allele Identifier: CA2649323

Gene: ATR

Linked Data

• ClinVar Variation Id: 2896712
• ClinVar RCV Id: RCV003731068
• dbSNP Id: rs760103695
• ExAC: 3:142188170 C / A
• gnomAD v2: 3-142188170-C-A
• gnomAD v3: 3-142469328-C-A
• gnomAD v4: 3-142469328-C-A
• MyVariant Identifiers: chr3:g.142188170C>A (hg19) ; chr3:g.142469328C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142469328C>A , CM000665.2:g.142469328C>A	GRCh38
NC_000003.11:g.142188170C>A , CM000665.1:g.142188170C>A	GRCh37
NC_000003.10:g.143670860C>A	NCBI36
NG_008951.1:g.114499G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6552+9G>T MANE Select	ENSP00000343741.4:n.6552+9G>T
ENST00000513291.2:n.1736+9G>T
ENST00000654170.1:n.1395+9G>T
ENST00000656590.1:c.5342+9G>T
ENST00000661310.1:c.6360+9G>T	ENSP00000499589.1:n.6360+9G>T
ENST00000665483.1:n.407+9G>T
ENST00000666447.1:n.396G>T
ENST00000666943.1:n.2025G>T
ENST00000350721.8:c.6552+9G>T	ENSP00000343741.4:n.6552+9G>T
ENST00000513291.1:c.91+9G>T
NM_001184.3:c.6552+9G>T	NP_001175.2:n.6552+9G>T
XM_011512924.1:c.6558+9G>T	XP_011511226.1:n.6558+9G>T
XM_011512925.1:c.6366+9G>T	XP_011511227.1:n.6366+9G>T
XR_924147.1:n.6647+9G>T
XR_924148.1:n.6647+9G>T
XR_924149.1:n.6526+9G>T
NM_001354579.1:c.6360+9G>T	NP_001341508.1:n.6360+9G>T
XR_001740179.2:n.6641+9G>T
XR_924148.2:n.6647+9G>T
NM_001184.4:c.6552+9G>T MANE Select	NP_001175.2:n.6552+9G>T
NM_001354579.2:c.6360+9G>T	NP_001341508.1:n.6360+9G>T