Canonical Allele Identifier: CA349621812

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2437515
• ClinVar RCV Id: RCV003143018
• MyVariant Identifiers: chr2:g.179435278G>A (hg19) ; chr2:g.178570551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570551G>A , CM000664.2:g.178570551G>A	GRCh38
NC_000002.11:g.179435278G>A , CM000664.1:g.179435278G>A	GRCh37
NC_000002.10:g.179143524G>A	NCBI36
NG_011618.3:g.265252C>T , LRG_391:g.265252C>T
NG_051363.1:g.52725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67877C>T (TTN)	ENSP00000343764.6:p.Ser22626Leu
ENST00000342175.11:c.48962C>T (TTN)	ENSP00000340554.6:p.Ser16321Leu
ENST00000359218.10:c.48761C>T (TTN)	ENSP00000352154.5:p.Ser16254Leu
ENST00000342175.10:c.48962C>T (TTN)	ENSP00000340554.6:p.Ser16321Leu
ENST00000342992.10:c.67877C>T (TTN)	ENSP00000343764.6:p.Ser22626Leu
ENST00000359218.9:c.48761C>T (TTN)	ENSP00000352154.5:p.Ser16254Leu
ENST00000460472.6:c.48386C>T (TTN)	ENSP00000434586.1:p.Ser16129Leu
ENST00000589042.5:c.75581C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser25194Leu
ENST00000591111.5:c.70658C>T (TTN)	ENSP00000465570.1:p.Ser23553Leu
ENST00000615779.4:c.70658C>T (TTN)	ENSP00000483597.1:p.Ser23553Leu
NM_001256850.1:c.70658C>T (TTN)	NP_001243779.1:p.Ser23553Leu
NM_001267550.2:c.75581C>T (TTN) MANE Select	NP_001254479.2:p.Ser25194Leu
NM_003319.4:c.48386C>T (TTN)	NP_003310.4:p.Ser16129Leu
NM_133378.4:c.67877C>T (TTN)	NP_596869.4:p.Ser22626Leu
NM_133432.3:c.48761C>T (TTN)	NP_597676.3:p.Ser16254Leu
NM_133437.4:c.48962C>T (TTN)	NP_597681.4:p.Ser16321Leu
NR_038271.1:n.447-749G>A (TTN-AS1)
NR_038272.1:n.2044-12021G>A (TTN-AS1)
XM_011511729.1:c.74678C>T (TTN)	XP_011510031.1:p.Ser24893Leu
XM_011511730.1:c.48572C>T (TTN)	XP_011510032.1:p.Ser16191Leu
XM_011511731.1:c.48431C>T (TTN)	XP_011510033.1:p.Ser16144Leu
XM_017004819.1:c.74474C>T (TTN)	XP_016860308.1:p.Ser24825Leu
XM_017004820.1:c.69872C>T (TTN)	XP_016860309.1:p.Ser23291Leu
XM_017004821.1:c.69869C>T (TTN)	XP_016860310.1:p.Ser23290Leu
XM_017004822.1:c.66911C>T (TTN)	XP_016860311.1:p.Ser22304Leu
XM_017004823.1:c.48527C>T (TTN)	XP_016860312.1:p.Ser16176Leu
XM_024453094.1:c.70022C>T (TTN)	XP_024308862.1:p.Ser23341Leu
XM_024453095.1:c.70019C>T (TTN)	XP_024308863.1:p.Ser23340Leu
XM_024453096.1:c.69452C>T (TTN)	XP_024308864.1:p.Ser23151Leu
XM_024453097.1:c.66794C>T (TTN)	XP_024308865.1:p.Ser22265Leu
XM_024453098.1:c.66713C>T (TTN)	XP_024308866.1:p.Ser22238Leu
XM_024453099.1:c.48476C>T (TTN)	XP_024308867.1:p.Ser16159Leu
XM_024453100.1:c.38330C>T (TTN)	XP_024308868.1:p.Ser12777Leu