Canonical Allele Identifier: CA349405417

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394803T>A (hg19) ; chr2:g.178530076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530076T>A , CM000664.2:g.178530076T>A	GRCh38
NC_000002.11:g.179394803T>A , CM000664.1:g.179394803T>A	GRCh37
NC_000002.10:g.179103049T>A	NCBI36
NG_011618.3:g.305727A>T , LRG_391:g.305727A>T
NG_051363.1:g.12250T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98711A>T (TTN)	ENSP00000343764.6:p.Lys32904Met
ENST00000342175.11:c.79796A>T (TTN)	ENSP00000340554.6:p.Lys26599Met
ENST00000359218.10:c.79595A>T (TTN)	ENSP00000352154.5:p.Lys26532Met
ENST00000342175.10:c.79796A>T (TTN)	ENSP00000340554.6:p.Lys26599Met
ENST00000342992.10:c.98711A>T (TTN)	ENSP00000343764.6:p.Lys32904Met
ENST00000359218.9:c.79595A>T (TTN)	ENSP00000352154.5:p.Lys26532Met
ENST00000460472.6:c.79220A>T (TTN)	ENSP00000434586.1:p.Lys26407Met
ENST00000589042.5:c.106415A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys35472Met
ENST00000591111.5:c.101492A>T (TTN)	ENSP00000465570.1:p.Lys33831Met
ENST00000615779.4:c.101492A>T (TTN)	ENSP00000483597.1:p.Lys33831Met
NM_001256850.1:c.101492A>T (TTN)	NP_001243779.1:p.Lys33831Met
NM_001267550.2:c.106415A>T (TTN) MANE Select	NP_001254479.2:p.Lys35472Met
NM_003319.4:c.79220A>T (TTN)	NP_003310.4:p.Lys26407Met
NM_133378.4:c.98711A>T (TTN)	NP_596869.4:p.Lys32904Met
NM_133432.3:c.79595A>T (TTN)	NP_597676.3:p.Lys26532Met
NM_133437.4:c.79796A>T (TTN)	NP_597681.4:p.Lys26599Met
NR_038271.1:n.446+6440T>A (TTN-AS1)
NR_038272.1:n.220-5656T>A (TTN-AS1)
XM_011511729.1:c.105512A>T (TTN)	XP_011510031.1:p.Lys35171Met
XM_011511730.1:c.79406A>T (TTN)	XP_011510032.1:p.Lys26469Met
XM_011511731.1:c.79265A>T (TTN)	XP_011510033.1:p.Lys26422Met
XM_017004819.1:c.105308A>T (TTN)	XP_016860308.1:p.Lys35103Met
XM_017004820.1:c.100706A>T (TTN)	XP_016860309.1:p.Lys33569Met
XM_017004821.1:c.100703A>T (TTN)	XP_016860310.1:p.Lys33568Met
XM_017004822.1:c.97745A>T (TTN)	XP_016860311.1:p.Lys32582Met
XM_017004823.1:c.79361A>T (TTN)	XP_016860312.1:p.Lys26454Met
XM_024453094.1:c.100856A>T (TTN)	XP_024308862.1:p.Lys33619Met
XM_024453095.1:c.100853A>T (TTN)	XP_024308863.1:p.Lys33618Met
XM_024453096.1:c.100286A>T (TTN)	XP_024308864.1:p.Lys33429Met
XM_024453097.1:c.97628A>T (TTN)	XP_024308865.1:p.Lys32543Met
XM_024453098.1:c.97547A>T (TTN)	XP_024308866.1:p.Lys32516Met
XM_024453099.1:c.79310A>T (TTN)	XP_024308867.1:p.Lys26437Met
XM_024453100.1:c.69164A>T (TTN)	XP_024308868.1:p.Lys23055Met