Canonical Allele Identifier: CA379105248

Gene: TNNI2

Linked Data

• ClinVar Variation Id: 546655
• ClinVar RCV Id: RCV000658580
• dbSNP Id: rs1554969616
• gnomAD v4: 11-1840588-G-C
• MyVariant Identifiers: chr11:g.1861818G>C (hg19) ; chr11:g.1840588G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1840588G>C , CM000673.2:g.1840588G>C	GRCh38
NC_000011.9:g.1861818G>C , CM000673.1:g.1861818G>C	GRCh37
NC_000011.8:g.1818394G>C	NCBI36
NG_011621.1:g.6586G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381911.6:c.118G>C MANE Select	ENSP00000371336.1:p.Glu40Gln
ENST00000252898.11:c.118G>C	ENSP00000252898.7:p.Glu40Gln
ENST00000381905.3:c.118G>C	ENSP00000371330.3:p.Glu40Gln
ENST00000381906.5:c.118G>C	ENSP00000371331.1:p.Glu40Gln
ENST00000381911.5:c.118G>C	ENSP00000371336.1:p.Glu40Gln
ENST00000468473.1:n.288G>C
ENST00000617947.4:c.118G>C	ENSP00000481242.1:p.Glu40Gln
NM_001145829.1:c.118G>C	NP_001139301.1:p.Glu40Gln
NM_001145841.1:c.118G>C	NP_001139313.1:p.Glu40Gln
NM_003282.3:c.118G>C	NP_003273.1:p.Glu40Gln
NM_003282.4:c.118G>C MANE Select	NP_003273.1:p.Glu40Gln
NM_001145829.2:c.118G>C	NP_001139301.1:p.Glu40Gln
NM_001145841.2:c.118G>C	NP_001139313.1:p.Glu40Gln