Canonical Allele Identifier: CA174264

Gene: TMPRSS2 MX1

Linked Data

• ClinVar Variation Id: 161524
• ClinVar RCV Id: RCV000149059
• dbSNP Id: rs193920966
• COSMIC: COSM1178755 ; COSM1178757
• MyVariant Identifiers: chr21:g.42840414_42840415del (hg19) ; chr21:g.41468487_41468488del (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.41468490_41468491del , CM000683.2:g.41468490_41468491del	GRCh38
NC_000021.8:g.42840417_42840418del , CM000683.1:g.42840417_42840418del	GRCh37
NC_000021.7:g.41762287_41762288del	NCBI36
NG_047085.1:g.44671_44672del
NG_047085.2:g.67629_67630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332149.10:c.1222_1223del (TMPRSS2) MANE Select	ENSP00000330330.5:p.Gln408GlufsTer9
ENST00000424093.6:c.1102_1103del (TMPRSS2)	ENSP00000397846.2:p.Gln368GlufsTer9
ENST00000454499.6:c.1222_1223del (TMPRSS2)	ENSP00000389006.2:p.Gln408GlufsTer9
ENST00000458356.6:c.1222_1223del (TMPRSS2)	ENSP00000391216.1:p.Gln408GlufsTer9
ENST00000676973.1:c.1222_1223del (TMPRSS2)	ENSP00000504705.1:p.Gln408GlufsTer9
ENST00000677680.1:c.*639_*640del (TMPRSS2)	ENSP00000504526.1:n.*639_*640del
ENST00000678171.1:c.1222_1223del (TMPRSS2)	ENSP00000503877.1:p.Gln408GlufsTer9
ENST00000678348.1:c.1222_1223del (TMPRSS2)	ENSP00000503556.1:p.Gln408GlufsTer9
ENST00000678617.1:n.1461_1462del (TMPRSS2)
ENST00000678743.1:c.898_899del (TMPRSS2)	ENSP00000503377.1:p.Gln300GlufsTer9
ENST00000678959.1:c.*954_*955del (TMPRSS2)	ENSP00000503114.1:n.*954_*955del
ENST00000679016.1:c.1015_1016del (TMPRSS2)	ENSP00000504610.1:p.Gln339GlufsTer9
ENST00000679054.1:c.1222_1223del (TMPRSS2)	ENSP00000502928.1:p.Gln408GlufsTer9
ENST00000679181.1:c.1172-132_1172-131del (TMPRSS2)	ENSP00000504238.1:n.1172-132_1172-131del
ENST00000679263.1:c.1381_1382del (TMPRSS2)	ENSP00000504602.1:p.Gln461GlufsTer9
ENST00000679386.1:c.*137_*138del (MX1)	ENSP00000505700.1:n.*137_*138del
ENST00000332149.9:c.1222_1223del (TMPRSS2)	ENSP00000330330.5:p.Gln408GlufsTer9
ENST00000398585.7:c.1333_1334del (TMPRSS2)	ENSP00000381588.3:p.Gln445GlufsTer9
ENST00000454499.5:c.1222_1223del (TMPRSS2)	ENSP00000389006.1:p.Gln408GlufsTer9
ENST00000458356.5:c.1222_1223del (TMPRSS2)	ENSP00000391216.1:p.Gln408GlufsTer9
ENST00000469395.1:n.350_351del (TMPRSS2)
NM_001135099.1:c.1333_1334del (TMPRSS2)	NP_001128571.1:p.Gln445GlufsTer9
NM_005656.3:c.1222_1223del (TMPRSS2)	NP_005647.3:p.Gln408GlufsTer9
XM_005261043.2:c.1102_1103del (TMPRSS2)	XP_005261100.1:p.Gln368GlufsTer9
XM_011529731.1:c.1222_1223del (TMPRSS2)	XP_011528033.1:p.Gln408GlufsTer9
XM_011529732.1:c.1172-132_1172-131del (TMPRSS2)	XP_011528034.1:n.1172-132_1172-131del
XM_011529733.1:c.898_899del (TMPRSS2)	XP_011528035.1:p.Gln300GlufsTer9
NM_005656.4:c.1222_1223del (TMPRSS2) MANE Select	NP_005647.3:p.Gln408GlufsTer9
NM_001382720.1:c.1222_1223del (TMPRSS2)	NP_001369649.1:p.Gln408GlufsTer9