Canonical Allele Identifier: CA349534533

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 501266
• ClinVar RCV Id: RCV000592832 ; RCV000818597 ; RCV003326470
• dbSNP Id: rs1477101279
• gnomAD v2: 2-179464475-C-T
• MyVariant Identifiers: chr2:g.179464475C>T (hg19) ; chr2:g.178599748C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178599748C>T , CM000664.2:g.178599748C>T	GRCh38
NC_000002.11:g.179464475C>T , CM000664.1:g.179464475C>T	GRCh37
NC_000002.10:g.179172720C>T	NCBI36
NG_011618.3:g.236055G>A , LRG_391:g.236055G>A
NG_051363.1:g.81922C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.48449G>A (TTN)	ENSP00000343764.6:p.Trp16150Ter
ENST00000342175.11:c.29534G>A (TTN)	ENSP00000340554.6:p.Trp9845Ter
ENST00000359218.10:c.29333G>A (TTN)	ENSP00000352154.5:p.Trp9778Ter
ENST00000342175.10:c.29534G>A (TTN)	ENSP00000340554.6:p.Trp9845Ter
ENST00000342992.10:c.48449G>A (TTN)	ENSP00000343764.6:p.Trp16150Ter
ENST00000359218.9:c.29333G>A (TTN)	ENSP00000352154.5:p.Trp9778Ter
ENST00000460472.6:c.28958G>A (TTN)	ENSP00000434586.1:p.Trp9653Ter
ENST00000589042.5:c.56153G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18718Ter
ENST00000591111.5:c.51230G>A (TTN)	ENSP00000465570.1:p.Trp17077Ter
ENST00000615779.4:c.51230G>A (TTN)	ENSP00000483597.1:p.Trp17077Ter
NM_001256850.1:c.51230G>A (TTN)	NP_001243779.1:p.Trp17077Ter
NM_001267550.2:c.56153G>A (TTN) MANE Select	NP_001254479.2:p.Trp18718Ter
NM_003319.4:c.28958G>A (TTN)	NP_003310.4:p.Trp9653Ter
NM_133378.4:c.48449G>A (TTN)	NP_596869.4:p.Trp16150Ter
NM_133432.3:c.29333G>A (TTN)	NP_597676.3:p.Trp9778Ter
NM_133437.4:c.29534G>A (TTN)	NP_597681.4:p.Trp9845Ter
NR_038271.1:n.682+2067C>T (TTN-AS1)
NR_038272.1:n.3723C>T (TTN-AS1)
XM_011511729.1:c.55250G>A (TTN)	XP_011510031.1:p.Trp18417Ter
XM_011511730.1:c.29144G>A (TTN)	XP_011510032.1:p.Trp9715Ter
XM_011511731.1:c.29003G>A (TTN)	XP_011510033.1:p.Trp9668Ter
XM_017004819.1:c.55046G>A (TTN)	XP_016860308.1:p.Trp18349Ter
XM_017004820.1:c.50444G>A (TTN)	XP_016860309.1:p.Trp16815Ter
XM_017004821.1:c.50441G>A (TTN)	XP_016860310.1:p.Trp16814Ter
XM_017004822.1:c.47483G>A (TTN)	XP_016860311.1:p.Trp15828Ter
XM_017004823.1:c.29099G>A (TTN)	XP_016860312.1:p.Trp9700Ter
XM_024453094.1:c.50594G>A (TTN)	XP_024308862.1:p.Trp16865Ter
XM_024453095.1:c.50591G>A (TTN)	XP_024308863.1:p.Trp16864Ter
XM_024453096.1:c.50024G>A (TTN)	XP_024308864.1:p.Trp16675Ter
XM_024453097.1:c.47366G>A (TTN)	XP_024308865.1:p.Trp15789Ter
XM_024453098.1:c.47285G>A (TTN)	XP_024308866.1:p.Trp15762Ter
XM_024453099.1:c.29048G>A (TTN)	XP_024308867.1:p.Trp9683Ter
XM_024453100.1:c.18902G>A (TTN)	XP_024308868.1:p.Trp6301Ter