Canonical Allele Identifier: CA349406817

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530447-A-G
• MyVariant Identifiers: chr2:g.179395174A>G (hg19) ; chr2:g.178530447A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530447A>G , CM000664.2:g.178530447A>G	GRCh38
NC_000002.11:g.179395174A>G , CM000664.1:g.179395174A>G	GRCh37
NC_000002.10:g.179103420A>G	NCBI36
NG_011618.3:g.305356T>C , LRG_391:g.305356T>C
NG_051363.1:g.12621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98464T>C (TTN)	ENSP00000343764.6:p.Ser32822Pro
ENST00000342175.11:c.79549T>C (TTN)	ENSP00000340554.6:p.Ser26517Pro
ENST00000359218.10:c.79348T>C (TTN)	ENSP00000352154.5:p.Ser26450Pro
ENST00000342175.10:c.79549T>C (TTN)	ENSP00000340554.6:p.Ser26517Pro
ENST00000342992.10:c.98464T>C (TTN)	ENSP00000343764.6:p.Ser32822Pro
ENST00000359218.9:c.79348T>C (TTN)	ENSP00000352154.5:p.Ser26450Pro
ENST00000460472.6:c.78973T>C (TTN)	ENSP00000434586.1:p.Ser26325Pro
ENST00000589042.5:c.106168T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser35390Pro
ENST00000591111.5:c.101245T>C (TTN)	ENSP00000465570.1:p.Ser33749Pro
ENST00000615779.4:c.101245T>C (TTN)	ENSP00000483597.1:p.Ser33749Pro
NM_001256850.1:c.101245T>C (TTN)	NP_001243779.1:p.Ser33749Pro
NM_001267550.2:c.106168T>C (TTN) MANE Select	NP_001254479.2:p.Ser35390Pro
NM_003319.4:c.78973T>C (TTN)	NP_003310.4:p.Ser26325Pro
NM_133378.4:c.98464T>C (TTN)	NP_596869.4:p.Ser32822Pro
NM_133432.3:c.79348T>C (TTN)	NP_597676.3:p.Ser26450Pro
NM_133437.4:c.79549T>C (TTN)	NP_597681.4:p.Ser26517Pro
NR_038271.1:n.446+6811A>G (TTN-AS1)
NR_038272.1:n.220-5285A>G (TTN-AS1)
XM_011511729.1:c.105265T>C (TTN)	XP_011510031.1:p.Ser35089Pro
XM_011511730.1:c.79159T>C (TTN)	XP_011510032.1:p.Ser26387Pro
XM_011511731.1:c.79018T>C (TTN)	XP_011510033.1:p.Ser26340Pro
XM_017004819.1:c.105061T>C (TTN)	XP_016860308.1:p.Ser35021Pro
XM_017004820.1:c.100459T>C (TTN)	XP_016860309.1:p.Ser33487Pro
XM_017004821.1:c.100456T>C (TTN)	XP_016860310.1:p.Ser33486Pro
XM_017004822.1:c.97498T>C (TTN)	XP_016860311.1:p.Ser32500Pro
XM_017004823.1:c.79114T>C (TTN)	XP_016860312.1:p.Ser26372Pro
XM_024453094.1:c.100609T>C (TTN)	XP_024308862.1:p.Ser33537Pro
XM_024453095.1:c.100606T>C (TTN)	XP_024308863.1:p.Ser33536Pro
XM_024453096.1:c.100039T>C (TTN)	XP_024308864.1:p.Ser33347Pro
XM_024453097.1:c.97381T>C (TTN)	XP_024308865.1:p.Ser32461Pro
XM_024453098.1:c.97300T>C (TTN)	XP_024308866.1:p.Ser32434Pro
XM_024453099.1:c.79063T>C (TTN)	XP_024308867.1:p.Ser26355Pro
XM_024453100.1:c.68917T>C (TTN)	XP_024308868.1:p.Ser22973Pro