Canonical Allele Identifier: CA349611353

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1363832000
• gnomAD v2: 2-179433558-A-T
• gnomAD v4: 2-178568831-A-T
• MyVariant Identifiers: chr2:g.179433558A>T (hg19) ; chr2:g.178568831A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568831A>T , CM000664.2:g.178568831A>T	GRCh38
NC_000002.11:g.179433558A>T , CM000664.1:g.179433558A>T	GRCh37
NC_000002.10:g.179141804A>T	NCBI36
NG_011618.3:g.266972T>A , LRG_391:g.266972T>A
NG_051363.1:g.51005A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69597T>A (TTN)	ENSP00000343764.6:p.Tyr23199Ter
ENST00000342175.11:c.50682T>A (TTN)	ENSP00000340554.6:p.Tyr16894Ter
ENST00000359218.10:c.50481T>A (TTN)	ENSP00000352154.5:p.Tyr16827Ter
ENST00000342175.10:c.50682T>A (TTN)	ENSP00000340554.6:p.Tyr16894Ter
ENST00000342992.10:c.69597T>A (TTN)	ENSP00000343764.6:p.Tyr23199Ter
ENST00000359218.9:c.50481T>A (TTN)	ENSP00000352154.5:p.Tyr16827Ter
ENST00000460472.6:c.50106T>A (TTN)	ENSP00000434586.1:p.Tyr16702Ter
ENST00000589042.5:c.77301T>A (TTN) MANE Select	ENSP00000467141.1:p.Tyr25767Ter
ENST00000591111.5:c.72378T>A (TTN)	ENSP00000465570.1:p.Tyr24126Ter
ENST00000615779.4:c.72378T>A (TTN)	ENSP00000483597.1:p.Tyr24126Ter
NM_001256850.1:c.72378T>A (TTN)	NP_001243779.1:p.Tyr24126Ter
NM_001267550.2:c.77301T>A (TTN) MANE Select	NP_001254479.2:p.Tyr25767Ter
NM_003319.4:c.50106T>A (TTN)	NP_003310.4:p.Tyr16702Ter
NM_133378.4:c.69597T>A (TTN)	NP_596869.4:p.Tyr23199Ter
NM_133432.3:c.50481T>A (TTN)	NP_597676.3:p.Tyr16827Ter
NM_133437.4:c.50682T>A (TTN)	NP_597681.4:p.Tyr16894Ter
NR_038271.1:n.447-2469A>T (TTN-AS1)
NR_038272.1:n.2044-13741A>T (TTN-AS1)
XM_011511729.1:c.76398T>A (TTN)	XP_011510031.1:p.Tyr25466Ter
XM_011511730.1:c.50292T>A (TTN)	XP_011510032.1:p.Tyr16764Ter
XM_011511731.1:c.50151T>A (TTN)	XP_011510033.1:p.Tyr16717Ter
XM_017004819.1:c.76194T>A (TTN)	XP_016860308.1:p.Tyr25398Ter
XM_017004820.1:c.71592T>A (TTN)	XP_016860309.1:p.Tyr23864Ter
XM_017004821.1:c.71589T>A (TTN)	XP_016860310.1:p.Tyr23863Ter
XM_017004822.1:c.68631T>A (TTN)	XP_016860311.1:p.Tyr22877Ter
XM_017004823.1:c.50247T>A (TTN)	XP_016860312.1:p.Tyr16749Ter
XM_024453094.1:c.71742T>A (TTN)	XP_024308862.1:p.Tyr23914Ter
XM_024453095.1:c.71739T>A (TTN)	XP_024308863.1:p.Tyr23913Ter
XM_024453096.1:c.71172T>A (TTN)	XP_024308864.1:p.Tyr23724Ter
XM_024453097.1:c.68514T>A (TTN)	XP_024308865.1:p.Tyr22838Ter
XM_024453098.1:c.68433T>A (TTN)	XP_024308866.1:p.Tyr22811Ter
XM_024453099.1:c.50196T>A (TTN)	XP_024308867.1:p.Tyr16732Ter
XM_024453100.1:c.40050T>A (TTN)	XP_024308868.1:p.Tyr13350Ter