Canonical Allele Identifier: CA237972

Gene: TTN

Linked Data

• ClinVar Variation Id: 202444
• ClinVar RCV Id: RCV000184304 ; RCV000473301 ; RCV000584801 ; RCV001375600 ; RCV002399688
• ClinVar Variation Id: 1329154
• ClinVar RCV Id: RCV001799197
• dbSNP Id: rs759525338
• ExAC: 2:179486459 GCTT / G
• gnomAD v2: 2-179486459-GCTT-G
• gnomAD v3: 2-178621732-GCTT-G
• gnomAD v4: 2-178621732-GCTT-G
• MyVariant Identifiers: chr2:g.179486460_179486462del (hg19) ; chr2:g.178621734_178621736del (hg38) ; chr2:g.178621733_178621735del (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621741_178621743del , CM000664.2:g.178621741_178621743del	GRCh38
NC_000002.11:g.179486468_179486470del , CM000664.1:g.179486468_179486470del	GRCh37
NC_000002.10:g.179194713_179194715del	NCBI36
NG_011618.3:g.214068_214070del , LRG_391:g.214068_214070del
NG_051363.1:g.103915_103917del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37385_37387del
ENST00000342175.11:c.18470_18472del
ENST00000359218.10:c.18269_18271del
ENST00000342175.10:c.18470_18472del
ENST00000342992.10:c.37385_37387del
ENST00000359218.9:c.18269_18271del
ENST00000460472.6:c.17894_17896del
ENST00000589042.5:c.45089_45091del
ENST00000591111.5:c.40166_40168del
ENST00000615779.4:c.40166_40168del
NM_001256850.1:c.40166_40168del
NM_001267550.2:c.45089_45091del
NM_003319.4:c.17894_17896del
NM_133378.4:c.37385_37387del
NM_133432.3:c.18269_18271del
NM_133437.4:c.18470_18472del
XM_011511729.1:c.44186_44188del
XM_011511730.1:c.18080_18082del
XM_011511731.1:c.17939_17941del
XM_017004819.1:c.43982_43984del
XM_017004820.1:c.39380_39382del
XM_017004821.1:c.39377_39379del
XM_017004822.1:c.36419_36421del
XM_017004823.1:c.18035_18037del
XM_024453094.1:c.39530_39532del
XM_024453095.1:c.39527_39529del
XM_024453096.1:c.38960_38962del
XM_024453097.1:c.36302_36304del
XM_024453098.1:c.36221_36223del
XM_024453099.1:c.17984_17986del
XM_024453100.1:c.7838_7840del