Canonical Allele Identifier: CA3973960
Gene: ROS1 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.117301021G>C , CM000668.2:g.117301021G>C GRCh38
NC_000006.11:g.117622184G>C , CM000668.1:g.117622184G>C GRCh37
NC_000006.10:g.117728877G>C NCBI36
NG_033929.1:g.129835C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368507.8:c.6668C>G MANE Select ENSP00000357493.3:p.Ser2223Cys
ENST00000368507.7:c.6668C>G ENSP00000357493.3:p.Ser2223Cys
ENST00000368508.7:c.6686C>G ENSP00000357494.3:p.Ser2229Cys
NM_002944.2:c.6686C>G NP_002935.2:p.Ser2229Cys
XM_006715548.2:c.6671C>G XP_006715611.1:p.Ser2224Cys
XM_011536049.1:c.6716C>G XP_011534351.1:p.Ser2239Cys
XM_011536050.1:c.6713C>G XP_011534352.1:p.Ser2238Cys
XM_011536051.1:c.6689C>G XP_011534353.1:p.Ser2230Cys
XM_011536052.1:c.6674C>G XP_011534354.1:p.Ser2225Cys
XM_011536053.1:c.6542C>G XP_011534355.1:p.Ser2181Cys
XM_011536054.1:c.6599+7773C>G XP_011534356.1:n.6599+7773C>G
XM_006715548.4:c.6671C>G XP_006715611.1:p.Ser2224Cys
XM_011536049.2:c.6716C>G XP_011534351.1:p.Ser2239Cys
XM_011536050.2:c.6713C>G XP_011534352.1:p.Ser2238Cys
XM_011536051.2:c.6689C>G XP_011534353.1:p.Ser2230Cys
XM_011536052.2:c.6674C>G XP_011534354.1:p.Ser2225Cys
XM_011536053.2:c.6542C>G XP_011534355.1:p.Ser2181Cys
XM_011536054.2:c.6599+7773C>G XP_011534356.1:n.6599+7773C>G
XM_017011172.1:c.6647C>G XP_016866661.1:p.Ser2216Cys
XM_017011173.1:c.6644C>G XP_016866662.1:p.Ser2215Cys
NM_001378891.1:c.6674C>G NP_001365820.1:p.Ser2225Cys
NM_001378902.1:c.6668C>G MANE Select NP_001365831.1:p.Ser2223Cys
NM_002944.3:c.6686C>G NP_002935.2:p.Ser2229Cys