Canonical Allele Identifier: CA261876

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47092
• ClinVar RCV Id: RCV000040362 ; RCV003764696
• dbSNP Id: rs397517620
• gnomAD v4: 2-178604051-A-C
• MyVariant Identifiers: chr2:g.179468778A>C (hg19) ; chr2:g.178604051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178604051A>C , CM000664.2:g.178604051A>C	GRCh38
NC_000002.11:g.179468778A>C , CM000664.1:g.179468778A>C	GRCh37
NC_000002.10:g.179177023A>C	NCBI36
NG_011618.3:g.231752T>G , LRG_391:g.231752T>G
NG_051363.1:g.86225A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.46932T>G (TTN)	ENSP00000343764.6:p.Tyr15644Ter
ENST00000342175.11:c.28017T>G (TTN)	ENSP00000340554.6:p.Tyr9339Ter
ENST00000359218.10:c.27816T>G (TTN)	ENSP00000352154.5:p.Tyr9272Ter
ENST00000342175.10:c.28017T>G (TTN)	ENSP00000340554.6:p.Tyr9339Ter
ENST00000342992.10:c.46932T>G (TTN)	ENSP00000343764.6:p.Tyr15644Ter
ENST00000359218.9:c.27816T>G (TTN)	ENSP00000352154.5:p.Tyr9272Ter
ENST00000460472.6:c.27441T>G (TTN)	ENSP00000434586.1:p.Tyr9147Ter
ENST00000589042.5:c.54636T>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr18212Ter
ENST00000591111.5:c.49713T>G (TTN)	ENSP00000465570.1:p.Tyr16571Ter
ENST00000615779.4:c.49713T>G (TTN)	ENSP00000483597.1:p.Tyr16571Ter
NM_001256850.1:c.49713T>G (TTN)	NP_001243779.1:p.Tyr16571Ter
NM_001267550.2:c.54636T>G (TTN) MANE Select	NP_001254479.2:p.Tyr18212Ter
NM_003319.4:c.27441T>G (TTN)	NP_003310.4:p.Tyr9147Ter
NM_133378.4:c.46932T>G (TTN)	NP_596869.4:p.Tyr15644Ter
NM_133432.3:c.27816T>G (TTN)	NP_597676.3:p.Tyr9272Ter
NM_133437.4:c.28017T>G (TTN)	NP_597681.4:p.Tyr9339Ter
NR_038271.1:n.683-4116A>C (TTN-AS1)
NR_038272.1:n.3918-680A>C (TTN-AS1)
XM_011511729.1:c.53733T>G (TTN)	XP_011510031.1:p.Tyr17911Ter
XM_011511730.1:c.27627T>G (TTN)	XP_011510032.1:p.Tyr9209Ter
XM_011511731.1:c.27486T>G (TTN)	XP_011510033.1:p.Tyr9162Ter
XM_017004819.1:c.53529T>G (TTN)	XP_016860308.1:p.Tyr17843Ter
XM_017004820.1:c.48927T>G (TTN)	XP_016860309.1:p.Tyr16309Ter
XM_017004821.1:c.48924T>G (TTN)	XP_016860310.1:p.Tyr16308Ter
XM_017004822.1:c.45966T>G (TTN)	XP_016860311.1:p.Tyr15322Ter
XM_017004823.1:c.27582T>G (TTN)	XP_016860312.1:p.Tyr9194Ter
XM_024453094.1:c.49077T>G (TTN)	XP_024308862.1:p.Tyr16359Ter
XM_024453095.1:c.49074T>G (TTN)	XP_024308863.1:p.Tyr16358Ter
XM_024453096.1:c.48507T>G (TTN)	XP_024308864.1:p.Tyr16169Ter
XM_024453097.1:c.45849T>G (TTN)	XP_024308865.1:p.Tyr15283Ter
XM_024453098.1:c.45768T>G (TTN)	XP_024308866.1:p.Tyr15256Ter
XM_024453099.1:c.27531T>G (TTN)	XP_024308867.1:p.Tyr9177Ter
XM_024453100.1:c.17385T>G (TTN)	XP_024308868.1:p.Tyr5795Ter