Canonical Allele Identifier: CA60953232

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 952750
• ClinVar RCV Id: RCV001224919
• dbSNP Id: rs922408768
• MyVariant Identifiers: chr2:g.179394984C>T (hg19) ; chr2:g.178530257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530257C>T , CM000664.2:g.178530257C>T	GRCh38
NC_000002.11:g.179394984C>T , CM000664.1:g.179394984C>T	GRCh37
NC_000002.10:g.179103230C>T	NCBI36
NG_011618.3:g.305546G>A , LRG_391:g.305546G>A
NG_051363.1:g.12431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98654G>A (TTN)	ENSP00000343764.6:p.Trp32885Ter
ENST00000342175.11:c.79739G>A (TTN)	ENSP00000340554.6:p.Trp26580Ter
ENST00000359218.10:c.79538G>A (TTN)	ENSP00000352154.5:p.Trp26513Ter
ENST00000342175.10:c.79739G>A (TTN)	ENSP00000340554.6:p.Trp26580Ter
ENST00000342992.10:c.98654G>A (TTN)	ENSP00000343764.6:p.Trp32885Ter
ENST00000359218.9:c.79538G>A (TTN)	ENSP00000352154.5:p.Trp26513Ter
ENST00000460472.6:c.79163G>A (TTN)	ENSP00000434586.1:p.Trp26388Ter
ENST00000589042.5:c.106358G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp35453Ter
ENST00000591111.5:c.101435G>A (TTN)	ENSP00000465570.1:p.Trp33812Ter
ENST00000615779.4:c.101435G>A (TTN)	ENSP00000483597.1:p.Trp33812Ter
NM_001256850.1:c.101435G>A (TTN)	NP_001243779.1:p.Trp33812Ter
NM_001267550.2:c.106358G>A (TTN) MANE Select	NP_001254479.2:p.Trp35453Ter
NM_003319.4:c.79163G>A (TTN)	NP_003310.4:p.Trp26388Ter
NM_133378.4:c.98654G>A (TTN)	NP_596869.4:p.Trp32885Ter
NM_133432.3:c.79538G>A (TTN)	NP_597676.3:p.Trp26513Ter
NM_133437.4:c.79739G>A (TTN)	NP_597681.4:p.Trp26580Ter
NR_038271.1:n.446+6621C>T (TTN-AS1)
NR_038272.1:n.220-5475C>T (TTN-AS1)
XM_011511729.1:c.105455G>A (TTN)	XP_011510031.1:p.Trp35152Ter
XM_011511730.1:c.79349G>A (TTN)	XP_011510032.1:p.Trp26450Ter
XM_011511731.1:c.79208G>A (TTN)	XP_011510033.1:p.Trp26403Ter
XM_017004819.1:c.105251G>A (TTN)	XP_016860308.1:p.Trp35084Ter
XM_017004820.1:c.100649G>A (TTN)	XP_016860309.1:p.Trp33550Ter
XM_017004821.1:c.100646G>A (TTN)	XP_016860310.1:p.Trp33549Ter
XM_017004822.1:c.97688G>A (TTN)	XP_016860311.1:p.Trp32563Ter
XM_017004823.1:c.79304G>A (TTN)	XP_016860312.1:p.Trp26435Ter
XM_024453094.1:c.100799G>A (TTN)	XP_024308862.1:p.Trp33600Ter
XM_024453095.1:c.100796G>A (TTN)	XP_024308863.1:p.Trp33599Ter
XM_024453096.1:c.100229G>A (TTN)	XP_024308864.1:p.Trp33410Ter
XM_024453097.1:c.97571G>A (TTN)	XP_024308865.1:p.Trp32524Ter
XM_024453098.1:c.97490G>A (TTN)	XP_024308866.1:p.Trp32497Ter
XM_024453099.1:c.79253G>A (TTN)	XP_024308867.1:p.Trp26418Ter
XM_024453100.1:c.69107G>A (TTN)	XP_024308868.1:p.Trp23036Ter