Canonical Allele Identifier: CA349446214

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs759428862
• gnomAD v3: 2-178543323-G-T
• gnomAD v4: 2-178543323-G-T
• MyVariant Identifiers: chr2:g.179408050G>T (hg19) ; chr2:g.178543323G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543323G>T , CM000664.2:g.178543323G>T	GRCh38
NC_000002.11:g.179408050G>T , CM000664.1:g.179408050G>T	GRCh37
NC_000002.10:g.179116296G>T	NCBI36
NG_011618.3:g.292480C>A , LRG_391:g.292480C>A
NG_051363.1:g.25497G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88946C>A (TTN)	ENSP00000343764.6:p.Ser29649Tyr
ENST00000342175.11:c.70031C>A (TTN)	ENSP00000340554.6:p.Ser23344Tyr
ENST00000359218.10:c.69830C>A (TTN)	ENSP00000352154.5:p.Ser23277Tyr
ENST00000342175.10:c.70031C>A (TTN)	ENSP00000340554.6:p.Ser23344Tyr
ENST00000342992.10:c.88946C>A (TTN)	ENSP00000343764.6:p.Ser29649Tyr
ENST00000359218.9:c.69830C>A (TTN)	ENSP00000352154.5:p.Ser23277Tyr
ENST00000460472.6:c.69455C>A (TTN)	ENSP00000434586.1:p.Ser23152Tyr
ENST00000589042.5:c.96650C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser32217Tyr
ENST00000591111.5:c.91727C>A (TTN)	ENSP00000465570.1:p.Ser30576Tyr
ENST00000615779.4:c.91727C>A (TTN)	ENSP00000483597.1:p.Ser30576Tyr
NM_001256850.1:c.91727C>A (TTN)	NP_001243779.1:p.Ser30576Tyr
NM_001267550.2:c.96650C>A (TTN) MANE Select	NP_001254479.2:p.Ser32217Tyr
NM_003319.4:c.69455C>A (TTN)	NP_003310.4:p.Ser23152Tyr
NM_133378.4:c.88946C>A (TTN)	NP_596869.4:p.Ser29649Tyr
NM_133432.3:c.69830C>A (TTN)	NP_597676.3:p.Ser23277Tyr
NM_133437.4:c.70031C>A (TTN)	NP_597681.4:p.Ser23344Tyr
NR_038271.1:n.446+19687G>T (TTN-AS1)
NR_038272.1:n.2043+962G>T (TTN-AS1)
XM_011511729.1:c.95747C>A (TTN)	XP_011510031.1:p.Ser31916Tyr
XM_011511730.1:c.69641C>A (TTN)	XP_011510032.1:p.Ser23214Tyr
XM_011511731.1:c.69500C>A (TTN)	XP_011510033.1:p.Ser23167Tyr
XM_017004819.1:c.95543C>A (TTN)	XP_016860308.1:p.Ser31848Tyr
XM_017004820.1:c.90941C>A (TTN)	XP_016860309.1:p.Ser30314Tyr
XM_017004821.1:c.90938C>A (TTN)	XP_016860310.1:p.Ser30313Tyr
XM_017004822.1:c.87980C>A (TTN)	XP_016860311.1:p.Ser29327Tyr
XM_017004823.1:c.69596C>A (TTN)	XP_016860312.1:p.Ser23199Tyr
XM_024453094.1:c.91091C>A (TTN)	XP_024308862.1:p.Ser30364Tyr
XM_024453095.1:c.91088C>A (TTN)	XP_024308863.1:p.Ser30363Tyr
XM_024453096.1:c.90521C>A (TTN)	XP_024308864.1:p.Ser30174Tyr
XM_024453097.1:c.87863C>A (TTN)	XP_024308865.1:p.Ser29288Tyr
XM_024453098.1:c.87782C>A (TTN)	XP_024308866.1:p.Ser29261Tyr
XM_024453099.1:c.69545C>A (TTN)	XP_024308867.1:p.Ser23182Tyr
XM_024453100.1:c.59399C>A (TTN)	XP_024308868.1:p.Ser19800Tyr