Canonical Allele Identifier: CA349543337

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424367A>G (hg19) ; chr2:g.178559640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559640A>G , CM000664.2:g.178559640A>G	GRCh38
NC_000002.11:g.179424367A>G , CM000664.1:g.179424367A>G	GRCh37
NC_000002.10:g.179132613A>G	NCBI36
NG_011618.3:g.276163T>C , LRG_391:g.276163T>C
NG_051363.1:g.41814A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78788T>C (TTN)	ENSP00000343764.6:p.Leu26263Ser
ENST00000342175.11:c.59873T>C (TTN)	ENSP00000340554.6:p.Leu19958Ser
ENST00000359218.10:c.59672T>C (TTN)	ENSP00000352154.5:p.Leu19891Ser
ENST00000342175.10:c.59873T>C (TTN)	ENSP00000340554.6:p.Leu19958Ser
ENST00000342992.10:c.78788T>C (TTN)	ENSP00000343764.6:p.Leu26263Ser
ENST00000359218.9:c.59672T>C (TTN)	ENSP00000352154.5:p.Leu19891Ser
ENST00000460472.6:c.59297T>C (TTN)	ENSP00000434586.1:p.Leu19766Ser
ENST00000589042.5:c.86492T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu28831Ser
ENST00000591111.5:c.81569T>C (TTN)	ENSP00000465570.1:p.Leu27190Ser
ENST00000615779.4:c.81569T>C (TTN)	ENSP00000483597.1:p.Leu27190Ser
NM_001256850.1:c.81569T>C (TTN)	NP_001243779.1:p.Leu27190Ser
NM_001267550.2:c.86492T>C (TTN) MANE Select	NP_001254479.2:p.Leu28831Ser
NM_003319.4:c.59297T>C (TTN)	NP_003310.4:p.Leu19766Ser
NM_133378.4:c.78788T>C (TTN)	NP_596869.4:p.Leu26263Ser
NM_133432.3:c.59672T>C (TTN)	NP_597676.3:p.Leu19891Ser
NM_133437.4:c.59873T>C (TTN)	NP_597681.4:p.Leu19958Ser
NR_038271.1:n.447-11660A>G (TTN-AS1)
NR_038272.1:n.2043+17279A>G (TTN-AS1)
XM_011511729.1:c.85589T>C (TTN)	XP_011510031.1:p.Leu28530Ser
XM_011511730.1:c.59483T>C (TTN)	XP_011510032.1:p.Leu19828Ser
XM_011511731.1:c.59342T>C (TTN)	XP_011510033.1:p.Leu19781Ser
XM_017004819.1:c.85385T>C (TTN)	XP_016860308.1:p.Leu28462Ser
XM_017004820.1:c.80783T>C (TTN)	XP_016860309.1:p.Leu26928Ser
XM_017004821.1:c.80780T>C (TTN)	XP_016860310.1:p.Leu26927Ser
XM_017004822.1:c.77822T>C (TTN)	XP_016860311.1:p.Leu25941Ser
XM_017004823.1:c.59438T>C (TTN)	XP_016860312.1:p.Leu19813Ser
XM_024453094.1:c.80933T>C (TTN)	XP_024308862.1:p.Leu26978Ser
XM_024453095.1:c.80930T>C (TTN)	XP_024308863.1:p.Leu26977Ser
XM_024453096.1:c.80363T>C (TTN)	XP_024308864.1:p.Leu26788Ser
XM_024453097.1:c.77705T>C (TTN)	XP_024308865.1:p.Leu25902Ser
XM_024453098.1:c.77624T>C (TTN)	XP_024308866.1:p.Leu25875Ser
XM_024453099.1:c.59387T>C (TTN)	XP_024308867.1:p.Leu19796Ser
XM_024453100.1:c.49241T>C (TTN)	XP_024308868.1:p.Leu16414Ser