Canonical Allele Identifier: CA354793875
Community Standard Title: NM_001184.4(ATR):c.7816C>G (p.Arg2606Gly)
Gene: ATR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142449548G>C , CM000665.2:g.142449548G>C GRCh38
NC_000003.11:g.142168390G>C , CM000665.1:g.142168390G>C GRCh37
NC_000003.10:g.143651080G>C NCBI36
NG_008951.1:g.134279C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001184.4:c.7816C>G MANE Select NP_001175.2:p.Arg2606Gly
ENST00000350721.9:c.7816C>G MANE Select ENSP00000343741.4:p.Arg2606Gly
NM_001184.3:c.7816C>G NP_001175.2:p.Arg2606Gly
NM_001354579.1:c.7624C>G NP_001341508.1:p.Arg2542Gly
NM_001354579.2:c.7624C>G NP_001341508.1:p.Arg2542Gly
ENST00000350721.8:c.7816C>G ENSP00000343741.4:p.Arg2606Gly
ENST00000504521.5:c.405C>G ENSP00000422553.1:n.405C>G
ENST00000513291.1:c.4880C>G
ENST00000513291.2:n.6525C>G
ENST00000515810.1:c.242C>G ENSP00000421870.1:n.242C>G
ENST00000653893.1:n.2674C>G
ENST00000654170.1:n.2659C>G
ENST00000656114.1:n.2902C>G
ENST00000656590.1:c.6743C>G
ENST00000658083.1:n.2996C>G
ENST00000661310.1:c.7624C>G ENSP00000499589.1:p.Arg2542Gly
ENST00000665483.1:n.5356C>G
ENST00000666447.1:n.4319C>G
ENST00000666943.1:n.4548C>G
XM_011512924.1:c.7822C>G XP_011511226.1:p.Arg2608Gly
XM_011512925.1:c.7630C>G XP_011511227.1:p.Arg2544Gly
XR_001740179.2:n.8042C>G
XR_924147.1:n.10573C>G
XR_924148.1:n.8048C>G
XR_924148.2:n.8048C>G