Canonical Allele Identifier: CA349450342

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408576G>A (hg19) ; chr2:g.178543849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543849G>A , CM000664.2:g.178543849G>A	GRCh38
NC_000002.11:g.179408576G>A , CM000664.1:g.179408576G>A	GRCh37
NC_000002.10:g.179116822G>A	NCBI36
NG_011618.3:g.291954C>T , LRG_391:g.291954C>T
NG_051363.1:g.26023G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88591C>T (TTN)	ENSP00000343764.6:p.Leu29531Phe
ENST00000342175.11:c.69676C>T (TTN)	ENSP00000340554.6:p.Leu23226Phe
ENST00000359218.10:c.69475C>T (TTN)	ENSP00000352154.5:p.Leu23159Phe
ENST00000342175.10:c.69676C>T (TTN)	ENSP00000340554.6:p.Leu23226Phe
ENST00000342992.10:c.88591C>T (TTN)	ENSP00000343764.6:p.Leu29531Phe
ENST00000359218.9:c.69475C>T (TTN)	ENSP00000352154.5:p.Leu23159Phe
ENST00000460472.6:c.69100C>T (TTN)	ENSP00000434586.1:p.Leu23034Phe
ENST00000589042.5:c.96295C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu32099Phe
ENST00000591111.5:c.91372C>T (TTN)	ENSP00000465570.1:p.Leu30458Phe
ENST00000615779.4:c.91372C>T (TTN)	ENSP00000483597.1:p.Leu30458Phe
NM_001256850.1:c.91372C>T (TTN)	NP_001243779.1:p.Leu30458Phe
NM_001267550.2:c.96295C>T (TTN) MANE Select	NP_001254479.2:p.Leu32099Phe
NM_003319.4:c.69100C>T (TTN)	NP_003310.4:p.Leu23034Phe
NM_133378.4:c.88591C>T (TTN)	NP_596869.4:p.Leu29531Phe
NM_133432.3:c.69475C>T (TTN)	NP_597676.3:p.Leu23159Phe
NM_133437.4:c.69676C>T (TTN)	NP_597681.4:p.Leu23226Phe
NR_038271.1:n.446+20213G>A (TTN-AS1)
NR_038272.1:n.2043+1488G>A (TTN-AS1)
XM_011511729.1:c.95392C>T (TTN)	XP_011510031.1:p.Leu31798Phe
XM_011511730.1:c.69286C>T (TTN)	XP_011510032.1:p.Leu23096Phe
XM_011511731.1:c.69145C>T (TTN)	XP_011510033.1:p.Leu23049Phe
XM_017004819.1:c.95188C>T (TTN)	XP_016860308.1:p.Leu31730Phe
XM_017004820.1:c.90586C>T (TTN)	XP_016860309.1:p.Leu30196Phe
XM_017004821.1:c.90583C>T (TTN)	XP_016860310.1:p.Leu30195Phe
XM_017004822.1:c.87625C>T (TTN)	XP_016860311.1:p.Leu29209Phe
XM_017004823.1:c.69241C>T (TTN)	XP_016860312.1:p.Leu23081Phe
XM_024453094.1:c.90736C>T (TTN)	XP_024308862.1:p.Leu30246Phe
XM_024453095.1:c.90733C>T (TTN)	XP_024308863.1:p.Leu30245Phe
XM_024453096.1:c.90166C>T (TTN)	XP_024308864.1:p.Leu30056Phe
XM_024453097.1:c.87508C>T (TTN)	XP_024308865.1:p.Leu29170Phe
XM_024453098.1:c.87427C>T (TTN)	XP_024308866.1:p.Leu29143Phe
XM_024453099.1:c.69190C>T (TTN)	XP_024308867.1:p.Leu23064Phe
XM_024453100.1:c.59044C>T (TTN)	XP_024308868.1:p.Leu19682Phe