Canonical Allele Identifier: CA349456109

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409046G>T (hg19) ; chr2:g.178544319G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544319G>T , CM000664.2:g.178544319G>T	GRCh38
NC_000002.11:g.179409046G>T , CM000664.1:g.179409046G>T	GRCh37
NC_000002.10:g.179117292G>T	NCBI36
NG_011618.3:g.291484C>A , LRG_391:g.291484C>A
NG_051363.1:g.26493G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88206C>A (TTN)	ENSP00000343764.6:p.Phe29402Leu
ENST00000342175.11:c.69291C>A (TTN)	ENSP00000340554.6:p.Phe23097Leu
ENST00000359218.10:c.69090C>A (TTN)	ENSP00000352154.5:p.Phe23030Leu
ENST00000342175.10:c.69291C>A (TTN)	ENSP00000340554.6:p.Phe23097Leu
ENST00000342992.10:c.88206C>A (TTN)	ENSP00000343764.6:p.Phe29402Leu
ENST00000359218.9:c.69090C>A (TTN)	ENSP00000352154.5:p.Phe23030Leu
ENST00000460472.6:c.68715C>A (TTN)	ENSP00000434586.1:p.Phe22905Leu
ENST00000589042.5:c.95910C>A (TTN) MANE Select	ENSP00000467141.1:p.Phe31970Leu
ENST00000591111.5:c.90987C>A (TTN)	ENSP00000465570.1:p.Phe30329Leu
ENST00000615779.4:c.90987C>A (TTN)	ENSP00000483597.1:p.Phe30329Leu
NM_001256850.1:c.90987C>A (TTN)	NP_001243779.1:p.Phe30329Leu
NM_001267550.2:c.95910C>A (TTN) MANE Select	NP_001254479.2:p.Phe31970Leu
NM_003319.4:c.68715C>A (TTN)	NP_003310.4:p.Phe22905Leu
NM_133378.4:c.88206C>A (TTN)	NP_596869.4:p.Phe29402Leu
NM_133432.3:c.69090C>A (TTN)	NP_597676.3:p.Phe23030Leu
NM_133437.4:c.69291C>A (TTN)	NP_597681.4:p.Phe23097Leu
NR_038271.1:n.446+20683G>T (TTN-AS1)
NR_038272.1:n.2043+1958G>T (TTN-AS1)
XM_011511729.1:c.95007C>A (TTN)	XP_011510031.1:p.Phe31669Leu
XM_011511730.1:c.68901C>A (TTN)	XP_011510032.1:p.Phe22967Leu
XM_011511731.1:c.68760C>A (TTN)	XP_011510033.1:p.Phe22920Leu
XM_017004819.1:c.94803C>A (TTN)	XP_016860308.1:p.Phe31601Leu
XM_017004820.1:c.90201C>A (TTN)	XP_016860309.1:p.Phe30067Leu
XM_017004821.1:c.90198C>A (TTN)	XP_016860310.1:p.Phe30066Leu
XM_017004822.1:c.87240C>A (TTN)	XP_016860311.1:p.Phe29080Leu
XM_017004823.1:c.68856C>A (TTN)	XP_016860312.1:p.Phe22952Leu
XM_024453094.1:c.90351C>A (TTN)	XP_024308862.1:p.Phe30117Leu
XM_024453095.1:c.90348C>A (TTN)	XP_024308863.1:p.Phe30116Leu
XM_024453096.1:c.89781C>A (TTN)	XP_024308864.1:p.Phe29927Leu
XM_024453097.1:c.87123C>A (TTN)	XP_024308865.1:p.Phe29041Leu
XM_024453098.1:c.87042C>A (TTN)	XP_024308866.1:p.Phe29014Leu
XM_024453099.1:c.68805C>A (TTN)	XP_024308867.1:p.Phe22935Leu
XM_024453100.1:c.58659C>A (TTN)	XP_024308868.1:p.Phe19553Leu