Canonical Allele Identifier: CA309352

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 202419
• ClinVar RCV Id: RCV000184275 ; RCV003765149
• dbSNP Id: rs794729296
• gnomAD v4: 2-178561235-C-T
• MyVariant Identifiers: chr2:g.179425962C>T (hg19) ; chr2:g.178561235C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178561235C>T , CM000664.2:g.178561235C>T	GRCh38
NC_000002.11:g.179425962C>T , CM000664.1:g.179425962C>T	GRCh37
NC_000002.10:g.179134208C>T	NCBI36
NG_011618.3:g.274568G>A , LRG_391:g.274568G>A
NG_051363.1:g.43409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.77193G>A (TTN)	ENSP00000343764.6:p.Trp25731Ter
ENST00000342175.11:c.58278G>A (TTN)	ENSP00000340554.6:p.Trp19426Ter
ENST00000359218.10:c.58077G>A (TTN)	ENSP00000352154.5:p.Trp19359Ter
ENST00000342175.10:c.58278G>A (TTN)	ENSP00000340554.6:p.Trp19426Ter
ENST00000342992.10:c.77193G>A (TTN)	ENSP00000343764.6:p.Trp25731Ter
ENST00000359218.9:c.58077G>A (TTN)	ENSP00000352154.5:p.Trp19359Ter
ENST00000460472.6:c.57702G>A (TTN)	ENSP00000434586.1:p.Trp19234Ter
ENST00000589042.5:c.84897G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp28299Ter
ENST00000591111.5:c.79974G>A (TTN)	ENSP00000465570.1:p.Trp26658Ter
ENST00000615779.4:c.79974G>A (TTN)	ENSP00000483597.1:p.Trp26658Ter
NM_001256850.1:c.79974G>A (TTN)	NP_001243779.1:p.Trp26658Ter
NM_001267550.2:c.84897G>A (TTN) MANE Select	NP_001254479.2:p.Trp28299Ter
NM_003319.4:c.57702G>A (TTN)	NP_003310.4:p.Trp19234Ter
NM_133378.4:c.77193G>A (TTN)	NP_596869.4:p.Trp25731Ter
NM_133432.3:c.58077G>A (TTN)	NP_597676.3:p.Trp19359Ter
NM_133437.4:c.58278G>A (TTN)	NP_597681.4:p.Trp19426Ter
NR_038271.1:n.447-10065C>T (TTN-AS1)
NR_038272.1:n.2043+18874C>T (TTN-AS1)
XM_011511729.1:c.83994G>A (TTN)	XP_011510031.1:p.Trp27998Ter
XM_011511730.1:c.57888G>A (TTN)	XP_011510032.1:p.Trp19296Ter
XM_011511731.1:c.57747G>A (TTN)	XP_011510033.1:p.Trp19249Ter
XM_017004819.1:c.83790G>A (TTN)	XP_016860308.1:p.Trp27930Ter
XM_017004820.1:c.79188G>A (TTN)	XP_016860309.1:p.Trp26396Ter
XM_017004821.1:c.79185G>A (TTN)	XP_016860310.1:p.Trp26395Ter
XM_017004822.1:c.76227G>A (TTN)	XP_016860311.1:p.Trp25409Ter
XM_017004823.1:c.57843G>A (TTN)	XP_016860312.1:p.Trp19281Ter
XM_024453094.1:c.79338G>A (TTN)	XP_024308862.1:p.Trp26446Ter
XM_024453095.1:c.79335G>A (TTN)	XP_024308863.1:p.Trp26445Ter
XM_024453096.1:c.78768G>A (TTN)	XP_024308864.1:p.Trp26256Ter
XM_024453097.1:c.76110G>A (TTN)	XP_024308865.1:p.Trp25370Ter
XM_024453098.1:c.76029G>A (TTN)	XP_024308866.1:p.Trp25343Ter
XM_024453099.1:c.57792G>A (TTN)	XP_024308867.1:p.Trp19264Ter
XM_024453100.1:c.47646G>A (TTN)	XP_024308868.1:p.Trp15882Ter