Canonical Allele Identifier: CA238474

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 192151
• ClinVar RCV Id: RCV000172631
• dbSNP Id: rs786205324
• MyVariant Identifiers: chr2:g.179431160T>C (hg19) ; chr2:g.178566433T>C (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566433T>C , CM000664.2:g.178566433T>C	GRCh38
NC_000002.11:g.179431160T>C , CM000664.1:g.179431160T>C	GRCh37
NC_000002.10:g.179139406T>C	NCBI36
NG_011618.3:g.269370A>G , LRG_391:g.269370A>G
NG_051363.1:g.48607T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71995A>G (TTN)	ENSP00000343764.6:p.Asn23999Asp
ENST00000342175.11:c.53080A>G (TTN)	ENSP00000340554.6:p.Asn17694Asp
ENST00000359218.10:c.52879A>G (TTN)	ENSP00000352154.5:p.Asn17627Asp
ENST00000342175.10:c.53080A>G (TTN)	ENSP00000340554.6:p.Asn17694Asp
ENST00000342992.10:c.71995A>G (TTN)	ENSP00000343764.6:p.Asn23999Asp
ENST00000359218.9:c.52879A>G (TTN)	ENSP00000352154.5:p.Asn17627Asp
ENST00000460472.6:c.52504A>G (TTN)	ENSP00000434586.1:p.Asn17502Asp
ENST00000589042.5:c.79699A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn26567Asp
ENST00000591111.5:c.74776A>G (TTN)	ENSP00000465570.1:p.Asn24926Asp
ENST00000615779.4:c.74776A>G (TTN)	ENSP00000483597.1:p.Asn24926Asp
NM_001256850.1:c.74776A>G (TTN)	NP_001243779.1:p.Asn24926Asp
NM_001267550.2:c.79699A>G (TTN) MANE Select	NP_001254479.2:p.Asn26567Asp
NM_003319.4:c.52504A>G (TTN)	NP_003310.4:p.Asn17502Asp
NM_133378.4:c.71995A>G (TTN)	NP_596869.4:p.Asn23999Asp
NM_133432.3:c.52879A>G (TTN)	NP_597676.3:p.Asn17627Asp
NM_133437.4:c.53080A>G (TTN)	NP_597681.4:p.Asn17694Asp
NR_038271.1:n.447-4867T>C (TTN-AS1)
NR_038272.1:n.2044-16139T>C (TTN-AS1)
XM_011511729.1:c.78796A>G (TTN)	XP_011510031.1:p.Asn26266Asp
XM_011511730.1:c.52690A>G (TTN)	XP_011510032.1:p.Asn17564Asp
XM_011511731.1:c.52549A>G (TTN)	XP_011510033.1:p.Asn17517Asp
XM_017004819.1:c.78592A>G (TTN)	XP_016860308.1:p.Asn26198Asp
XM_017004820.1:c.73990A>G (TTN)	XP_016860309.1:p.Asn24664Asp
XM_017004821.1:c.73987A>G (TTN)	XP_016860310.1:p.Asn24663Asp
XM_017004822.1:c.71029A>G (TTN)	XP_016860311.1:p.Asn23677Asp
XM_017004823.1:c.52645A>G (TTN)	XP_016860312.1:p.Asn17549Asp
XM_024453094.1:c.74140A>G (TTN)	XP_024308862.1:p.Asn24714Asp
XM_024453095.1:c.74137A>G (TTN)	XP_024308863.1:p.Asn24713Asp
XM_024453096.1:c.73570A>G (TTN)	XP_024308864.1:p.Asn24524Asp
XM_024453097.1:c.70912A>G (TTN)	XP_024308865.1:p.Asn23638Asp
XM_024453098.1:c.70831A>G (TTN)	XP_024308866.1:p.Asn23611Asp
XM_024453099.1:c.52594A>G (TTN)	XP_024308867.1:p.Asn17532Asp
XM_024453100.1:c.42448A>G (TTN)	XP_024308868.1:p.Asn14150Asp