Canonical Allele Identifier: CA349407206

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2921699
• ClinVar RCV Id: RCV003782721
• MyVariant Identifiers: chr2:g.179395323C>A (hg19) ; chr2:g.178530596C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530596C>A , CM000664.2:g.178530596C>A	GRCh38
NC_000002.11:g.179395323C>A , CM000664.1:g.179395323C>A	GRCh37
NC_000002.10:g.179103569C>A	NCBI36
NG_011618.3:g.305207G>T , LRG_391:g.305207G>T
NG_051363.1:g.12770C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98315G>T (TTN)	ENSP00000343764.6:p.Gly32772Val
ENST00000342175.11:c.79400G>T (TTN)	ENSP00000340554.6:p.Gly26467Val
ENST00000359218.10:c.79199G>T (TTN)	ENSP00000352154.5:p.Gly26400Val
ENST00000342175.10:c.79400G>T (TTN)	ENSP00000340554.6:p.Gly26467Val
ENST00000342992.10:c.98315G>T (TTN)	ENSP00000343764.6:p.Gly32772Val
ENST00000359218.9:c.79199G>T (TTN)	ENSP00000352154.5:p.Gly26400Val
ENST00000460472.6:c.78824G>T (TTN)	ENSP00000434586.1:p.Gly26275Val
ENST00000589042.5:c.106019G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly35340Val
ENST00000591111.5:c.101096G>T (TTN)	ENSP00000465570.1:p.Gly33699Val
ENST00000615779.4:c.101096G>T (TTN)	ENSP00000483597.1:p.Gly33699Val
NM_001256850.1:c.101096G>T (TTN)	NP_001243779.1:p.Gly33699Val
NM_001267550.2:c.106019G>T (TTN) MANE Select	NP_001254479.2:p.Gly35340Val
NM_003319.4:c.78824G>T (TTN)	NP_003310.4:p.Gly26275Val
NM_133378.4:c.98315G>T (TTN)	NP_596869.4:p.Gly32772Val
NM_133432.3:c.79199G>T (TTN)	NP_597676.3:p.Gly26400Val
NM_133437.4:c.79400G>T (TTN)	NP_597681.4:p.Gly26467Val
NR_038271.1:n.446+6960C>A (TTN-AS1)
NR_038272.1:n.220-5136C>A (TTN-AS1)
XM_011511729.1:c.105116G>T (TTN)	XP_011510031.1:p.Gly35039Val
XM_011511730.1:c.79010G>T (TTN)	XP_011510032.1:p.Gly26337Val
XM_011511731.1:c.78869G>T (TTN)	XP_011510033.1:p.Gly26290Val
XM_017004819.1:c.104912G>T (TTN)	XP_016860308.1:p.Gly34971Val
XM_017004820.1:c.100310G>T (TTN)	XP_016860309.1:p.Gly33437Val
XM_017004821.1:c.100307G>T (TTN)	XP_016860310.1:p.Gly33436Val
XM_017004822.1:c.97349G>T (TTN)	XP_016860311.1:p.Gly32450Val
XM_017004823.1:c.78965G>T (TTN)	XP_016860312.1:p.Gly26322Val
XM_024453094.1:c.100460G>T (TTN)	XP_024308862.1:p.Gly33487Val
XM_024453095.1:c.100457G>T (TTN)	XP_024308863.1:p.Gly33486Val
XM_024453096.1:c.99890G>T (TTN)	XP_024308864.1:p.Gly33297Val
XM_024453097.1:c.97232G>T (TTN)	XP_024308865.1:p.Gly32411Val
XM_024453098.1:c.97151G>T (TTN)	XP_024308866.1:p.Gly32384Val
XM_024453099.1:c.78914G>T (TTN)	XP_024308867.1:p.Gly26305Val
XM_024453100.1:c.68768G>T (TTN)	XP_024308868.1:p.Gly22923Val