Canonical Allele Identifier: CA5815111

Gene: TNNI2

Linked Data

• ClinVar Variation Id: 288563
• ClinVar RCV Id: RCV000403565
• dbSNP Id: rs200853083
• ExAC: 11:1861809 C / T
• gnomAD v2: 11-1861809-C-T
• gnomAD v3: 11-1840579-C-T
• gnomAD v4: 11-1840579-C-T
• MyVariant Identifiers: chr11:g.1861809C>T (hg19) ; chr11:g.1840579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1840579C>T , CM000673.2:g.1840579C>T	GRCh38
NC_000011.9:g.1861809C>T , CM000673.1:g.1861809C>T	GRCh37
NC_000011.8:g.1818385C>T	NCBI36
NG_011621.1:g.6577C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381911.6:c.109C>T MANE Select	ENSP00000371336.1:p.Arg37Cys
ENST00000252898.11:c.109C>T	ENSP00000252898.7:p.Arg37Cys
ENST00000381905.3:c.109C>T	ENSP00000371330.3:p.Arg37Cys
ENST00000381906.5:c.109C>T	ENSP00000371331.1:p.Arg37Cys
ENST00000381911.5:c.109C>T	ENSP00000371336.1:p.Arg37Cys
ENST00000468473.1:n.279C>T
ENST00000617947.4:c.109C>T	ENSP00000481242.1:p.Arg37Cys
NM_001145829.1:c.109C>T	NP_001139301.1:p.Arg37Cys
NM_001145841.1:c.109C>T	NP_001139313.1:p.Arg37Cys
NM_003282.3:c.109C>T	NP_003273.1:p.Arg37Cys
NM_003282.4:c.109C>T MANE Select	NP_003273.1:p.Arg37Cys
NM_001145829.2:c.109C>T	NP_001139301.1:p.Arg37Cys
NM_001145841.2:c.109C>T	NP_001139313.1:p.Arg37Cys