Canonical Allele Identifier: CA147635

Gene: TNNI2

Linked Data

• ClinVar Variation Id: 94120
• ClinVar RCV Id: RCV000080081 ; RCV000128669 ; RCV000361293 ; RCV000610105
• dbSNP Id: rs907610
• ExAC: 11:1861760 T / C
• gnomAD v2: 11-1861760-T-C
• gnomAD v3: 11-1840530-T-C
• gnomAD v4: 11-1840530-T-C
• MyVariant Identifiers: chr11:g.1861760T>C (hg19) ; chr11:g.1840530T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1840530T>C , CM000673.2:g.1840530T>C	GRCh38
NC_000011.9:g.1861760T>C , CM000673.1:g.1861760T>C	GRCh37
NC_000011.8:g.1818336T>C	NCBI36
NG_011621.1:g.6528T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381911.6:c.60T>C MANE Select	ENSP00000371336.1:p.Ser20=
ENST00000252898.11:c.60T>C	ENSP00000252898.7:p.Ser20=
ENST00000381905.3:c.60T>C	ENSP00000371330.3:p.Ser20=
ENST00000381906.5:c.60T>C	ENSP00000371331.1:p.Ser20=
ENST00000381911.5:c.60T>C	ENSP00000371336.1:p.Ser20=
ENST00000468473.1:n.230T>C
ENST00000617947.4:c.60T>C	ENSP00000481242.1:p.Ser20=
NM_001145829.1:c.60T>C	NP_001139301.1:p.Ser20=
NM_001145841.1:c.60T>C	NP_001139313.1:p.Ser20=
NM_003282.3:c.60T>C	NP_003273.1:p.Ser20=
NM_003282.4:c.60T>C MANE Select	NP_003273.1:p.Ser20=
NM_001145829.2:c.60T>C	NP_001139301.1:p.Ser20=
NM_001145841.2:c.60T>C	NP_001139313.1:p.Ser20=