Canonical Allele Identifier: CA122381

Gene: TNNI2

Linked Data

• ClinVar Variation Id: 12437
• ClinVar RCV Id: RCV000013250 ; RCV000128668
• dbSNP Id: rs199474801
• MyVariant Identifiers: chr11:g.1862759_1862761del (hg19) ; chr11:g.1841529_1841531del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1841529_1841531del , CM000673.2:g.1841529_1841531del	GRCh38
NC_000011.9:g.1862759_1862761del , CM000673.1:g.1862759_1862761del	GRCh37
NC_000011.8:g.1819335_1819337del	NCBI36
NG_011621.1:g.7527_7529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381911.6:c.527_529del MANE Select	ENSP00000371336.1:p.Lys176del
ENST00000252898.11:c.527_529del	ENSP00000252898.7:p.Lys176del
ENST00000381905.3:c.527_529del	ENSP00000371330.3:p.Lys176del
ENST00000381906.5:c.527_529del	ENSP00000371331.1:p.Lys176del
ENST00000381911.5:c.527_529del	ENSP00000371336.1:p.Lys176del
ENST00000617947.4:c.527_529del	ENSP00000481242.1:p.Lys176del
NM_001145829.1:c.527_529del	NP_001139301.1:p.Lys176del
NM_001145841.1:c.527_529del	NP_001139313.1:p.Lys176del
NM_003282.3:c.527_529del	NP_003273.1:p.Lys176del
NM_003282.4:c.527_529del MANE Select	NP_003273.1:p.Lys176del
NM_001145829.2:c.527_529del	NP_001139301.1:p.Lys176del
NM_001145841.2:c.527_529del	NP_001139313.1:p.Lys176del