Canonical Allele Identifier: CA349496744

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457799G>C (hg19) ; chr2:g.178593072G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593072G>C , CM000664.2:g.178593072G>C	GRCh38
NC_000002.11:g.179457799G>C , CM000664.1:g.179457799G>C	GRCh37
NC_000002.10:g.179166045G>C	NCBI36
NG_011618.3:g.242731C>G , LRG_391:g.242731C>G
NG_051363.1:g.75246G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51343C>G (TTN)	ENSP00000343764.6:p.Pro17115Ala
ENST00000342175.11:c.32428C>G (TTN)	ENSP00000340554.6:p.Pro10810Ala
ENST00000359218.10:c.32227C>G (TTN)	ENSP00000352154.5:p.Pro10743Ala
ENST00000342175.10:c.32428C>G (TTN)	ENSP00000340554.6:p.Pro10810Ala
ENST00000342992.10:c.51343C>G (TTN)	ENSP00000343764.6:p.Pro17115Ala
ENST00000359218.9:c.32227C>G (TTN)	ENSP00000352154.5:p.Pro10743Ala
ENST00000460472.6:c.31852C>G (TTN)	ENSP00000434586.1:p.Pro10618Ala
ENST00000589042.5:c.59047C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19683Ala
ENST00000591111.5:c.54124C>G (TTN)	ENSP00000465570.1:p.Pro18042Ala
ENST00000615779.4:c.54124C>G (TTN)	ENSP00000483597.1:p.Pro18042Ala
NM_001256850.1:c.54124C>G (TTN)	NP_001243779.1:p.Pro18042Ala
NM_001267550.2:c.59047C>G (TTN) MANE Select	NP_001254479.2:p.Pro19683Ala
NM_003319.4:c.31852C>G (TTN)	NP_003310.4:p.Pro10618Ala
NM_133378.4:c.51343C>G (TTN)	NP_596869.4:p.Pro17115Ala
NM_133432.3:c.32227C>G (TTN)	NP_597676.3:p.Pro10743Ala
NM_133437.4:c.32428C>G (TTN)	NP_597681.4:p.Pro10810Ala
NR_038271.1:n.597-4524G>C (TTN-AS1)
NR_038272.1:n.3364+1758G>C (TTN-AS1)
XM_011511729.1:c.58144C>G (TTN)	XP_011510031.1:p.Pro19382Ala
XM_011511730.1:c.32038C>G (TTN)	XP_011510032.1:p.Pro10680Ala
XM_011511731.1:c.31897C>G (TTN)	XP_011510033.1:p.Pro10633Ala
XM_017004819.1:c.57940C>G (TTN)	XP_016860308.1:p.Pro19314Ala
XM_017004820.1:c.53338C>G (TTN)	XP_016860309.1:p.Pro17780Ala
XM_017004821.1:c.53335C>G (TTN)	XP_016860310.1:p.Pro17779Ala
XM_017004822.1:c.50377C>G (TTN)	XP_016860311.1:p.Pro16793Ala
XM_017004823.1:c.31993C>G (TTN)	XP_016860312.1:p.Pro10665Ala
XM_024453094.1:c.53488C>G (TTN)	XP_024308862.1:p.Pro17830Ala
XM_024453095.1:c.53485C>G (TTN)	XP_024308863.1:p.Pro17829Ala
XM_024453096.1:c.52918C>G (TTN)	XP_024308864.1:p.Pro17640Ala
XM_024453097.1:c.50260C>G (TTN)	XP_024308865.1:p.Pro16754Ala
XM_024453098.1:c.50179C>G (TTN)	XP_024308866.1:p.Pro16727Ala
XM_024453099.1:c.31942C>G (TTN)	XP_024308867.1:p.Pro10648Ala
XM_024453100.1:c.21796C>G (TTN)	XP_024308868.1:p.Pro7266Ala