Canonical Allele Identifier: CA3973962
Gene: ROS1 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.117301025T>G , CM000668.2:g.117301025T>G GRCh38
NC_000006.11:g.117622188T>G , CM000668.1:g.117622188T>G GRCh37
NC_000006.10:g.117728881T>G NCBI36
NG_033929.1:g.129831A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368507.8:c.6664A>C MANE Select ENSP00000357493.3:p.Lys2222Gln
ENST00000368507.7:c.6664A>C ENSP00000357493.3:p.Lys2222Gln
ENST00000368508.7:c.6682A>C ENSP00000357494.3:p.Lys2228Gln
NM_002944.2:c.6682A>C NP_002935.2:p.Lys2228Gln
XM_006715548.2:c.6667A>C XP_006715611.1:p.Lys2223Gln
XM_011536049.1:c.6712A>C XP_011534351.1:p.Lys2238Gln
XM_011536050.1:c.6709A>C XP_011534352.1:p.Lys2237Gln
XM_011536051.1:c.6685A>C XP_011534353.1:p.Lys2229Gln
XM_011536052.1:c.6670A>C XP_011534354.1:p.Lys2224Gln
XM_011536053.1:c.6538A>C XP_011534355.1:p.Lys2180Gln
XM_011536054.1:c.6599+7769A>C XP_011534356.1:n.6599+7769A>C
XM_006715548.4:c.6667A>C XP_006715611.1:p.Lys2223Gln
XM_011536049.2:c.6712A>C XP_011534351.1:p.Lys2238Gln
XM_011536050.2:c.6709A>C XP_011534352.1:p.Lys2237Gln
XM_011536051.2:c.6685A>C XP_011534353.1:p.Lys2229Gln
XM_011536052.2:c.6670A>C XP_011534354.1:p.Lys2224Gln
XM_011536053.2:c.6538A>C XP_011534355.1:p.Lys2180Gln
XM_011536054.2:c.6599+7769A>C XP_011534356.1:n.6599+7769A>C
XM_017011172.1:c.6643A>C XP_016866661.1:p.Lys2215Gln
XM_017011173.1:c.6640A>C XP_016866662.1:p.Lys2214Gln
NM_001378891.1:c.6670A>C NP_001365820.1:p.Lys2224Gln
NM_001378902.1:c.6664A>C MANE Select NP_001365831.1:p.Lys2222Gln
NM_002944.3:c.6682A>C NP_002935.2:p.Lys2228Gln