Canonical Allele Identifier: CA349405245

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394776T>A (hg19) ; chr2:g.178530049T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530049T>A , CM000664.2:g.178530049T>A	GRCh38
NC_000002.11:g.179394776T>A , CM000664.1:g.179394776T>A	GRCh37
NC_000002.10:g.179103022T>A	NCBI36
NG_011618.3:g.305754A>T , LRG_391:g.305754A>T
NG_051363.1:g.12223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98738A>T (TTN)	ENSP00000343764.6:p.Lys32913Met
ENST00000342175.11:c.79823A>T (TTN)	ENSP00000340554.6:p.Lys26608Met
ENST00000359218.10:c.79622A>T (TTN)	ENSP00000352154.5:p.Lys26541Met
ENST00000342175.10:c.79823A>T (TTN)	ENSP00000340554.6:p.Lys26608Met
ENST00000342992.10:c.98738A>T (TTN)	ENSP00000343764.6:p.Lys32913Met
ENST00000359218.9:c.79622A>T (TTN)	ENSP00000352154.5:p.Lys26541Met
ENST00000460472.6:c.79247A>T (TTN)	ENSP00000434586.1:p.Lys26416Met
ENST00000589042.5:c.106442A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys35481Met
ENST00000591111.5:c.101519A>T (TTN)	ENSP00000465570.1:p.Lys33840Met
ENST00000615779.4:c.101519A>T (TTN)	ENSP00000483597.1:p.Lys33840Met
NM_001256850.1:c.101519A>T (TTN)	NP_001243779.1:p.Lys33840Met
NM_001267550.2:c.106442A>T (TTN) MANE Select	NP_001254479.2:p.Lys35481Met
NM_003319.4:c.79247A>T (TTN)	NP_003310.4:p.Lys26416Met
NM_133378.4:c.98738A>T (TTN)	NP_596869.4:p.Lys32913Met
NM_133432.3:c.79622A>T (TTN)	NP_597676.3:p.Lys26541Met
NM_133437.4:c.79823A>T (TTN)	NP_597681.4:p.Lys26608Met
NR_038271.1:n.446+6413T>A (TTN-AS1)
NR_038272.1:n.220-5683T>A (TTN-AS1)
XM_011511729.1:c.105539A>T (TTN)	XP_011510031.1:p.Lys35180Met
XM_011511730.1:c.79433A>T (TTN)	XP_011510032.1:p.Lys26478Met
XM_011511731.1:c.79292A>T (TTN)	XP_011510033.1:p.Lys26431Met
XM_017004819.1:c.105335A>T (TTN)	XP_016860308.1:p.Lys35112Met
XM_017004820.1:c.100733A>T (TTN)	XP_016860309.1:p.Lys33578Met
XM_017004821.1:c.100730A>T (TTN)	XP_016860310.1:p.Lys33577Met
XM_017004822.1:c.97772A>T (TTN)	XP_016860311.1:p.Lys32591Met
XM_017004823.1:c.79388A>T (TTN)	XP_016860312.1:p.Lys26463Met
XM_024453094.1:c.100883A>T (TTN)	XP_024308862.1:p.Lys33628Met
XM_024453095.1:c.100880A>T (TTN)	XP_024308863.1:p.Lys33627Met
XM_024453096.1:c.100313A>T (TTN)	XP_024308864.1:p.Lys33438Met
XM_024453097.1:c.97655A>T (TTN)	XP_024308865.1:p.Lys32552Met
XM_024453098.1:c.97574A>T (TTN)	XP_024308866.1:p.Lys32525Met
XM_024453099.1:c.79337A>T (TTN)	XP_024308867.1:p.Lys26446Met
XM_024453100.1:c.69191A>T (TTN)	XP_024308868.1:p.Lys23064Met