Canonical Allele Identifier: CA349613804

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434049G>C (hg19) ; chr2:g.178569322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569322G>C , CM000664.2:g.178569322G>C	GRCh38
NC_000002.11:g.179434049G>C , CM000664.1:g.179434049G>C	GRCh37
NC_000002.10:g.179142295G>C	NCBI36
NG_011618.3:g.266481C>G , LRG_391:g.266481C>G
NG_051363.1:g.51496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69106C>G (TTN)	ENSP00000343764.6:p.Pro23036Ala
ENST00000342175.11:c.50191C>G (TTN)	ENSP00000340554.6:p.Pro16731Ala
ENST00000359218.10:c.49990C>G (TTN)	ENSP00000352154.5:p.Pro16664Ala
ENST00000342175.10:c.50191C>G (TTN)	ENSP00000340554.6:p.Pro16731Ala
ENST00000342992.10:c.69106C>G (TTN)	ENSP00000343764.6:p.Pro23036Ala
ENST00000359218.9:c.49990C>G (TTN)	ENSP00000352154.5:p.Pro16664Ala
ENST00000460472.6:c.49615C>G (TTN)	ENSP00000434586.1:p.Pro16539Ala
ENST00000589042.5:c.76810C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro25604Ala
ENST00000591111.5:c.71887C>G (TTN)	ENSP00000465570.1:p.Pro23963Ala
ENST00000615779.4:c.71887C>G (TTN)	ENSP00000483597.1:p.Pro23963Ala
NM_001256850.1:c.71887C>G (TTN)	NP_001243779.1:p.Pro23963Ala
NM_001267550.2:c.76810C>G (TTN) MANE Select	NP_001254479.2:p.Pro25604Ala
NM_003319.4:c.49615C>G (TTN)	NP_003310.4:p.Pro16539Ala
NM_133378.4:c.69106C>G (TTN)	NP_596869.4:p.Pro23036Ala
NM_133432.3:c.49990C>G (TTN)	NP_597676.3:p.Pro16664Ala
NM_133437.4:c.50191C>G (TTN)	NP_597681.4:p.Pro16731Ala
NR_038271.1:n.447-1978G>C (TTN-AS1)
NR_038272.1:n.2044-13250G>C (TTN-AS1)
XM_011511729.1:c.75907C>G (TTN)	XP_011510031.1:p.Pro25303Ala
XM_011511730.1:c.49801C>G (TTN)	XP_011510032.1:p.Pro16601Ala
XM_011511731.1:c.49660C>G (TTN)	XP_011510033.1:p.Pro16554Ala
XM_017004819.1:c.75703C>G (TTN)	XP_016860308.1:p.Pro25235Ala
XM_017004820.1:c.71101C>G (TTN)	XP_016860309.1:p.Pro23701Ala
XM_017004821.1:c.71098C>G (TTN)	XP_016860310.1:p.Pro23700Ala
XM_017004822.1:c.68140C>G (TTN)	XP_016860311.1:p.Pro22714Ala
XM_017004823.1:c.49756C>G (TTN)	XP_016860312.1:p.Pro16586Ala
XM_024453094.1:c.71251C>G (TTN)	XP_024308862.1:p.Pro23751Ala
XM_024453095.1:c.71248C>G (TTN)	XP_024308863.1:p.Pro23750Ala
XM_024453096.1:c.70681C>G (TTN)	XP_024308864.1:p.Pro23561Ala
XM_024453097.1:c.68023C>G (TTN)	XP_024308865.1:p.Pro22675Ala
XM_024453098.1:c.67942C>G (TTN)	XP_024308866.1:p.Pro22648Ala
XM_024453099.1:c.49705C>G (TTN)	XP_024308867.1:p.Pro16569Ala
XM_024453100.1:c.39559C>G (TTN)	XP_024308868.1:p.Pro13187Ala