Canonical Allele Identifier: CA1947877343
Gene: TNNI2 HGNC NCBI

Linked Data

dbSNP Id: rs1847146839

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1840608_1840609del , CM000673.2:g.1840608_1840609del GRCh38
NC_000011.9:g.1861838_1861839del , CM000673.1:g.1861838_1861839del GRCh37
NC_000011.8:g.1818414_1818415del NCBI36
NG_011621.1:g.6606_6607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000381911.6:c.138_139del MANE Select ENSP00000371336.1:p.Glu47AlafsTer13
ENST00000252898.11:c.138_139del ENSP00000252898.7:p.Glu47AlafsTer13
ENST00000381905.3:c.138_139del ENSP00000371330.3:p.Glu47AlafsTer13
ENST00000381906.5:c.138_139del ENSP00000371331.1:p.Glu47AlafsTer13
ENST00000381911.5:c.138_139del ENSP00000371336.1:p.Glu47AlafsTer13
ENST00000468473.1:n.308_309del
ENST00000617947.4:c.138_139del ENSP00000481242.1:p.Glu47AlafsTer13
NM_001145829.1:c.138_139del NP_001139301.1:p.Glu47AlafsTer13
NM_001145841.1:c.138_139del NP_001139313.1:p.Glu47AlafsTer13
NM_003282.3:c.138_139del NP_003273.1:p.Glu47AlafsTer13
NM_003282.4:c.138_139del MANE Select NP_003273.1:p.Glu47AlafsTer13
NM_001145829.2:c.138_139del NP_001139301.1:p.Glu47AlafsTer13
NM_001145841.2:c.138_139del NP_001139313.1:p.Glu47AlafsTer13