Canonical Allele Identifier: CA275197

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 196644
• ClinVar RCV Id: RCV003362713 ; RCV001049392 ; RCV000407629
• dbSNP Id: rs794727539
• MyVariant Identifiers: chr2:g.179402215G>C (hg19) ; chr2:g.178537488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537488G>C , CM000664.2:g.178537488G>C	GRCh38
NC_000002.11:g.179402215G>C , CM000664.1:g.179402215G>C	GRCh37
NC_000002.10:g.179110461G>C	NCBI36
NG_011618.3:g.298315C>G , LRG_391:g.298315C>G
NG_051363.1:g.19662G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92015C>G (TTN)	ENSP00000343764.6:p.Ser30672Ter
ENST00000342175.11:c.73100C>G (TTN)	ENSP00000340554.6:p.Ser24367Ter
ENST00000359218.10:c.72899C>G (TTN)	ENSP00000352154.5:p.Ser24300Ter
ENST00000342175.10:c.73100C>G (TTN)	ENSP00000340554.6:p.Ser24367Ter
ENST00000342992.10:c.92015C>G (TTN)	ENSP00000343764.6:p.Ser30672Ter
ENST00000359218.9:c.72899C>G (TTN)	ENSP00000352154.5:p.Ser24300Ter
ENST00000460472.6:c.72524C>G (TTN)	ENSP00000434586.1:p.Ser24175Ter
ENST00000589042.5:c.99719C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser33240Ter
ENST00000591111.5:c.94796C>G (TTN)	ENSP00000465570.1:p.Ser31599Ter
ENST00000615779.4:c.94796C>G (TTN)	ENSP00000483597.1:p.Ser31599Ter
NM_001256850.1:c.94796C>G (TTN)	NP_001243779.1:p.Ser31599Ter
NM_001267550.2:c.99719C>G (TTN) MANE Select	NP_001254479.2:p.Ser33240Ter
NM_003319.4:c.72524C>G (TTN)	NP_003310.4:p.Ser24175Ter
NM_133378.4:c.92015C>G (TTN)	NP_596869.4:p.Ser30672Ter
NM_133432.3:c.72899C>G (TTN)	NP_597676.3:p.Ser24300Ter
NM_133437.4:c.73100C>G (TTN)	NP_597681.4:p.Ser24367Ter
NR_038271.1:n.446+13852G>C (TTN-AS1)
NR_038272.1:n.444G>C (TTN-AS1)
XM_011511729.1:c.98816C>G (TTN)	XP_011510031.1:p.Ser32939Ter
XM_011511730.1:c.72710C>G (TTN)	XP_011510032.1:p.Ser24237Ter
XM_011511731.1:c.72569C>G (TTN)	XP_011510033.1:p.Ser24190Ter
XM_017004819.1:c.98612C>G (TTN)	XP_016860308.1:p.Ser32871Ter
XM_017004820.1:c.94010C>G (TTN)	XP_016860309.1:p.Ser31337Ter
XM_017004821.1:c.94007C>G (TTN)	XP_016860310.1:p.Ser31336Ter
XM_017004822.1:c.91049C>G (TTN)	XP_016860311.1:p.Ser30350Ter
XM_017004823.1:c.72665C>G (TTN)	XP_016860312.1:p.Ser24222Ter
XM_024453094.1:c.94160C>G (TTN)	XP_024308862.1:p.Ser31387Ter
XM_024453095.1:c.94157C>G (TTN)	XP_024308863.1:p.Ser31386Ter
XM_024453096.1:c.93590C>G (TTN)	XP_024308864.1:p.Ser31197Ter
XM_024453097.1:c.90932C>G (TTN)	XP_024308865.1:p.Ser30311Ter
XM_024453098.1:c.90851C>G (TTN)	XP_024308866.1:p.Ser30284Ter
XM_024453099.1:c.72614C>G (TTN)	XP_024308867.1:p.Ser24205Ter
XM_024453100.1:c.62468C>G (TTN)	XP_024308868.1:p.Ser20823Ter