Canonical Allele Identifier: CA349548137

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535042
• ClinVar RCV Id: RCV000642803
• dbSNP Id: rs1553562490
• MyVariant Identifiers: chr2:g.179425104A>T (hg19) ; chr2:g.178560377A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178560377A>T , CM000664.2:g.178560377A>T	GRCh38
NC_000002.11:g.179425104A>T , CM000664.1:g.179425104A>T	GRCh37
NC_000002.10:g.179133350A>T	NCBI36
NG_011618.3:g.275426T>A , LRG_391:g.275426T>A
NG_051363.1:g.42551A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.78051T>A (TTN)	ENSP00000343764.6:p.Tyr26017Ter
ENST00000342175.11:c.59136T>A (TTN)	ENSP00000340554.6:p.Tyr19712Ter
ENST00000359218.10:c.58935T>A (TTN)	ENSP00000352154.5:p.Tyr19645Ter
ENST00000342175.10:c.59136T>A (TTN)	ENSP00000340554.6:p.Tyr19712Ter
ENST00000342992.10:c.78051T>A (TTN)	ENSP00000343764.6:p.Tyr26017Ter
ENST00000359218.9:c.58935T>A (TTN)	ENSP00000352154.5:p.Tyr19645Ter
ENST00000460472.6:c.58560T>A (TTN)	ENSP00000434586.1:p.Tyr19520Ter
ENST00000589042.5:c.85755T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr28585Ter
ENST00000591111.5:c.80832T>A (TTN)	ENSP00000465570.1:p.Tyr26944Ter
ENST00000615779.4:c.80832T>A (TTN)	ENSP00000483597.1:p.Tyr26944Ter
NM_001256850.1:c.80832T>A (TTN)	NP_001243779.1:p.Tyr26944Ter
NM_001267550.2:c.85755T>A (TTN) MANE Select	NP_001254479.2:p.Tyr28585Ter
NM_003319.4:c.58560T>A (TTN)	NP_003310.4:p.Tyr19520Ter
NM_133378.4:c.78051T>A (TTN)	NP_596869.4:p.Tyr26017Ter
NM_133432.3:c.58935T>A (TTN)	NP_597676.3:p.Tyr19645Ter
NM_133437.4:c.59136T>A (TTN)	NP_597681.4:p.Tyr19712Ter
NR_038271.1:n.447-10923A>T (TTN-AS1)
NR_038272.1:n.2043+18016A>T (TTN-AS1)
XM_011511729.1:c.84852T>A (TTN)	XP_011510031.1:p.Tyr28284Ter
XM_011511730.1:c.58746T>A (TTN)	XP_011510032.1:p.Tyr19582Ter
XM_011511731.1:c.58605T>A (TTN)	XP_011510033.1:p.Tyr19535Ter
XM_017004819.1:c.84648T>A (TTN)	XP_016860308.1:p.Tyr28216Ter
XM_017004820.1:c.80046T>A (TTN)	XP_016860309.1:p.Tyr26682Ter
XM_017004821.1:c.80043T>A (TTN)	XP_016860310.1:p.Tyr26681Ter
XM_017004822.1:c.77085T>A (TTN)	XP_016860311.1:p.Tyr25695Ter
XM_017004823.1:c.58701T>A (TTN)	XP_016860312.1:p.Tyr19567Ter
XM_024453094.1:c.80196T>A (TTN)	XP_024308862.1:p.Tyr26732Ter
XM_024453095.1:c.80193T>A (TTN)	XP_024308863.1:p.Tyr26731Ter
XM_024453096.1:c.79626T>A (TTN)	XP_024308864.1:p.Tyr26542Ter
XM_024453097.1:c.76968T>A (TTN)	XP_024308865.1:p.Tyr25656Ter
XM_024453098.1:c.76887T>A (TTN)	XP_024308866.1:p.Tyr25629Ter
XM_024453099.1:c.58650T>A (TTN)	XP_024308867.1:p.Tyr19550Ter
XM_024453100.1:c.48504T>A (TTN)	XP_024308868.1:p.Tyr16168Ter