Canonical Allele Identifier: CA9880810
Gene: TNNC2 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.45824058C>A
GRCh37 chr20:g.44452697C>A
gnomAD v2:
20:44452697 C / A
gnomAD v3:
20:45824058 C / A
gnomAD v4:
chr20-45824058-C-A
Joint Max Group AF 0.55409205 (AMR)
Genomes Max Group AF 0.53850307 (NFE)
Exomes Max Group AF 0.57364092 (AMR)
dbSNP:
4629
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45824058C>A , CM000682.2:g.45824058C>A GRCh38
NC_000020.10:g.44452697C>A , CM000682.1:g.44452697C>A GRCh37
NC_000020.9:g.43886104C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000372555.8:c.384G>T MANE Select ENSP00000361636.3:p.Thr128=
ENST00000372555.7:c.384G>T ENSP00000361636.3:p.Thr128=
ENST00000372557.1:c.339G>T ENSP00000361638.1:p.Thr113=
NM_003279.2:c.384G>T NP_003270.1:p.Thr128=
XM_011529031.1:c.339G>T XP_011527333.1:p.Thr113=
XM_011529031.2:c.339G>T XP_011527333.1:p.Thr113=
NM_003279.3:c.384G>T MANE Select NP_003270.1:p.Thr128=
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