Canonical Allele Identifier: CA349466299

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179410945C>T (hg19) ; chr2:g.178546218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546218C>T , CM000664.2:g.178546218C>T	GRCh38
NC_000002.11:g.179410945C>T , CM000664.1:g.179410945C>T	GRCh37
NC_000002.10:g.179119191C>T	NCBI36
NG_011618.3:g.289585G>A , LRG_391:g.289585G>A
NG_051363.1:g.28392C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87409G>A (TTN)	ENSP00000343764.6:p.Val29137Met
ENST00000342175.11:c.68494G>A (TTN)	ENSP00000340554.6:p.Val22832Met
ENST00000359218.10:c.68293G>A (TTN)	ENSP00000352154.5:p.Val22765Met
ENST00000342175.10:c.68494G>A (TTN)	ENSP00000340554.6:p.Val22832Met
ENST00000342992.10:c.87409G>A (TTN)	ENSP00000343764.6:p.Val29137Met
ENST00000359218.9:c.68293G>A (TTN)	ENSP00000352154.5:p.Val22765Met
ENST00000460472.6:c.67918G>A (TTN)	ENSP00000434586.1:p.Val22640Met
ENST00000589042.5:c.95113G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31705Met
ENST00000591111.5:c.90190G>A (TTN)	ENSP00000465570.1:p.Val30064Met
ENST00000615779.4:c.90190G>A (TTN)	ENSP00000483597.1:p.Val30064Met
NM_001256850.1:c.90190G>A (TTN)	NP_001243779.1:p.Val30064Met
NM_001267550.2:c.95113G>A (TTN) MANE Select	NP_001254479.2:p.Val31705Met
NM_003319.4:c.67918G>A (TTN)	NP_003310.4:p.Val22640Met
NM_133378.4:c.87409G>A (TTN)	NP_596869.4:p.Val29137Met
NM_133432.3:c.68293G>A (TTN)	NP_597676.3:p.Val22765Met
NM_133437.4:c.68494G>A (TTN)	NP_597681.4:p.Val22832Met
NR_038271.1:n.446+22582C>T (TTN-AS1)
NR_038272.1:n.2043+3857C>T (TTN-AS1)
XM_011511729.1:c.94210G>A (TTN)	XP_011510031.1:p.Val31404Met
XM_011511730.1:c.68104G>A (TTN)	XP_011510032.1:p.Val22702Met
XM_011511731.1:c.67963G>A (TTN)	XP_011510033.1:p.Val22655Met
XM_017004819.1:c.94006G>A (TTN)	XP_016860308.1:p.Val31336Met
XM_017004820.1:c.89404G>A (TTN)	XP_016860309.1:p.Val29802Met
XM_017004821.1:c.89401G>A (TTN)	XP_016860310.1:p.Val29801Met
XM_017004822.1:c.86443G>A (TTN)	XP_016860311.1:p.Val28815Met
XM_017004823.1:c.68059G>A (TTN)	XP_016860312.1:p.Val22687Met
XM_024453094.1:c.89554G>A (TTN)	XP_024308862.1:p.Val29852Met
XM_024453095.1:c.89551G>A (TTN)	XP_024308863.1:p.Val29851Met
XM_024453096.1:c.88984G>A (TTN)	XP_024308864.1:p.Val29662Met
XM_024453097.1:c.86326G>A (TTN)	XP_024308865.1:p.Val28776Met
XM_024453098.1:c.86245G>A (TTN)	XP_024308866.1:p.Val28749Met
XM_024453099.1:c.68008G>A (TTN)	XP_024308867.1:p.Val22670Met
XM_024453100.1:c.57862G>A (TTN)	XP_024308868.1:p.Val19288Met