Canonical Allele Identifier: CA349405556

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1408549737
• gnomAD v3: 2-178530097-T-G
• gnomAD v4: 2-178530097-T-G
• MyVariant Identifiers: chr2:g.179394824T>G (hg19) ; chr2:g.178530097T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530097T>G , CM000664.2:g.178530097T>G	GRCh38
NC_000002.11:g.179394824T>G , CM000664.1:g.179394824T>G	GRCh37
NC_000002.10:g.179103070T>G	NCBI36
NG_011618.3:g.305706A>C , LRG_391:g.305706A>C
NG_051363.1:g.12271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98690A>C (TTN)	ENSP00000343764.6:p.Lys32897Thr
ENST00000342175.11:c.79775A>C (TTN)	ENSP00000340554.6:p.Lys26592Thr
ENST00000359218.10:c.79574A>C (TTN)	ENSP00000352154.5:p.Lys26525Thr
ENST00000342175.10:c.79775A>C (TTN)	ENSP00000340554.6:p.Lys26592Thr
ENST00000342992.10:c.98690A>C (TTN)	ENSP00000343764.6:p.Lys32897Thr
ENST00000359218.9:c.79574A>C (TTN)	ENSP00000352154.5:p.Lys26525Thr
ENST00000460472.6:c.79199A>C (TTN)	ENSP00000434586.1:p.Lys26400Thr
ENST00000589042.5:c.106394A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys35465Thr
ENST00000591111.5:c.101471A>C (TTN)	ENSP00000465570.1:p.Lys33824Thr
ENST00000615779.4:c.101471A>C (TTN)	ENSP00000483597.1:p.Lys33824Thr
NM_001256850.1:c.101471A>C (TTN)	NP_001243779.1:p.Lys33824Thr
NM_001267550.2:c.106394A>C (TTN) MANE Select	NP_001254479.2:p.Lys35465Thr
NM_003319.4:c.79199A>C (TTN)	NP_003310.4:p.Lys26400Thr
NM_133378.4:c.98690A>C (TTN)	NP_596869.4:p.Lys32897Thr
NM_133432.3:c.79574A>C (TTN)	NP_597676.3:p.Lys26525Thr
NM_133437.4:c.79775A>C (TTN)	NP_597681.4:p.Lys26592Thr
NR_038271.1:n.446+6461T>G (TTN-AS1)
NR_038272.1:n.220-5635T>G (TTN-AS1)
XM_011511729.1:c.105491A>C (TTN)	XP_011510031.1:p.Lys35164Thr
XM_011511730.1:c.79385A>C (TTN)	XP_011510032.1:p.Lys26462Thr
XM_011511731.1:c.79244A>C (TTN)	XP_011510033.1:p.Lys26415Thr
XM_017004819.1:c.105287A>C (TTN)	XP_016860308.1:p.Lys35096Thr
XM_017004820.1:c.100685A>C (TTN)	XP_016860309.1:p.Lys33562Thr
XM_017004821.1:c.100682A>C (TTN)	XP_016860310.1:p.Lys33561Thr
XM_017004822.1:c.97724A>C (TTN)	XP_016860311.1:p.Lys32575Thr
XM_017004823.1:c.79340A>C (TTN)	XP_016860312.1:p.Lys26447Thr
XM_024453094.1:c.100835A>C (TTN)	XP_024308862.1:p.Lys33612Thr
XM_024453095.1:c.100832A>C (TTN)	XP_024308863.1:p.Lys33611Thr
XM_024453096.1:c.100265A>C (TTN)	XP_024308864.1:p.Lys33422Thr
XM_024453097.1:c.97607A>C (TTN)	XP_024308865.1:p.Lys32536Thr
XM_024453098.1:c.97526A>C (TTN)	XP_024308866.1:p.Lys32509Thr
XM_024453099.1:c.79289A>C (TTN)	XP_024308867.1:p.Lys26430Thr
XM_024453100.1:c.69143A>C (TTN)	XP_024308868.1:p.Lys23048Thr