Canonical Allele Identifier: CA10607486

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 291763
• ClinVar RCV Id: RCV000267829 ; RCV000353235 ; RCV000394679
• dbSNP Id: rs3059695
• gnomAD v2: 1-11085004-A-ATGTTT
• gnomAD v3: 1-11024947-A-ATGTTT
• gnomAD v4: 1-11024947-A-ATGTTT
• COSMIC: COSN20094301 ; COSN20094302 ; COSN20094303 ; COSN20094304
• MyVariant Identifiers: chr1:g.11085005_11085006insGTTTT (hg19) ; chr1:g.11085004_11085005insTGTTT (hg19) ; chr1:g.11024948_11024949insGTTTT (hg38) ; chr1:g.11024947_11024948insTGTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11024948_11024949insGTTTT , CM000663.2:g.11024948_11024949insGTTTT	GRCh38
NC_000001.10:g.11085005_11085006insGTTTT , CM000663.1:g.11085005_11085006insGTTTT	GRCh37
NC_000001.9:g.11007592_11007593insGTTTT	NCBI36
NG_007289.1:g.27281_27282insAAACA
NG_008734.1:g.17327_17328insGTTTT , LRG_659:g.17327_17328insGTTTT
NG_007289.2:g.27281_27282insAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1396+1802_1396+1803insAAACA (MASP2)	ENSP00000514787.1:n.1396+1802_1396+1803insAAACA
ENST00000240185.8:c.*2294_*2295insGTTTT (TARDBP) MANE Select	ENSP00000240185.4:n.*2294_*2295insGTTTT
ENST00000240185.7:c.*2294_*2295insGTTTT (TARDBP)	ENSP00000240185.3:n.*2294_*2295insGTTTT
ENST00000473869.5:c.*966_*967insGTTTT (TARDBP)	ENSP00000432132.1:n.*966_*967insGTTTT
ENST00000477447.6:c.312-162_312-161insGTTTT (TARDBP)
ENST00000480464.2:n.408-162_408-161insGTTTT (TARDBP)
ENST00000496840.1:c.405-162_405-161insGTTTT (TARDBP)	ENSP00000467020.1:n.405-162_405-161insGTTTT
ENST00000611008.4:n.547-162_547-161insGTTTT (TARDBP)
ENST00000611136.4:c.350-162_350-161insGTTTT
ENST00000612542.1:c.108-162_108-161insGTTTT
ENST00000613177.1:n.286-162_286-161insGTTTT (TARDBP)
ENST00000614757.4:c.*354-162_*354-161insGTTTT	ENSP00000481867.1:n.*354-162_*354-161insGTTTT
ENST00000620028.1:n.156_157insGTTTT
ENST00000620505.1:c.546-162_546-161insGTTTT (TARDBP)
ENST00000622108.1:c.133-162_133-161insGTTTT	ENSP00000480398.1:n.133-162_133-161insGTTTT
NM_007375.3:c.*2294_*2295insGTTTT , LRG_659t1:c.*2294_*2295insGTTTT (TARDBP)	NP_031401.1:n.*2294_*2295insGTTTT
XR_946596.1:n.2927_2928insGTTTT (TARDBP)
XR_946597.1:n.2043-162_2043-161insGTTTT (TARDBP)
XM_017000863.2:c.*2294_*2295insGTTTT (TARDBP)	XP_016856352.1:n.*2294_*2295insGTTTT
XM_017000864.2:c.*1682-162_*1682-161insGTTTT (TARDBP)	XP_016856353.1:n.*1682-162_*1682-161insGTTTT
XM_017000865.2:c.*1682-162_*1682-161insGTTTT (TARDBP)	XP_016856354.1:n.*1682-162_*1682-161insGTTTT
XM_017000866.2:c.*1560_*1561insGTTTT (TARDBP)	XP_016856355.1:n.*1560_*1561insGTTTT
XM_017000867.2:c.*948-162_*948-161insGTTTT (TARDBP)	XP_016856356.1:n.*948-162_*948-161insGTTTT
XM_017000868.2:c.*676-162_*676-161insGTTTT (TARDBP)	XP_016856357.1:n.*676-162_*676-161insGTTTT
NM_007375.4:c.*2294_*2295insGTTTT (TARDBP) MANE Select	NP_031401.1:n.*2294_*2295insGTTTT