Canonical Allele Identifier: CA349616293

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434606G>C (hg19) ; chr2:g.178569879G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569879G>C , CM000664.2:g.178569879G>C	GRCh38
NC_000002.11:g.179434606G>C , CM000664.1:g.179434606G>C	GRCh37
NC_000002.10:g.179142852G>C	NCBI36
NG_011618.3:g.265924C>G , LRG_391:g.265924C>G
NG_051363.1:g.52053G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68549C>G (TTN)	ENSP00000343764.6:p.Thr22850Ser
ENST00000342175.11:c.49634C>G (TTN)	ENSP00000340554.6:p.Thr16545Ser
ENST00000359218.10:c.49433C>G (TTN)	ENSP00000352154.5:p.Thr16478Ser
ENST00000342175.10:c.49634C>G (TTN)	ENSP00000340554.6:p.Thr16545Ser
ENST00000342992.10:c.68549C>G (TTN)	ENSP00000343764.6:p.Thr22850Ser
ENST00000359218.9:c.49433C>G (TTN)	ENSP00000352154.5:p.Thr16478Ser
ENST00000460472.6:c.49058C>G (TTN)	ENSP00000434586.1:p.Thr16353Ser
ENST00000589042.5:c.76253C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr25418Ser
ENST00000591111.5:c.71330C>G (TTN)	ENSP00000465570.1:p.Thr23777Ser
ENST00000615779.4:c.71330C>G (TTN)	ENSP00000483597.1:p.Thr23777Ser
NM_001256850.1:c.71330C>G (TTN)	NP_001243779.1:p.Thr23777Ser
NM_001267550.2:c.76253C>G (TTN) MANE Select	NP_001254479.2:p.Thr25418Ser
NM_003319.4:c.49058C>G (TTN)	NP_003310.4:p.Thr16353Ser
NM_133378.4:c.68549C>G (TTN)	NP_596869.4:p.Thr22850Ser
NM_133432.3:c.49433C>G (TTN)	NP_597676.3:p.Thr16478Ser
NM_133437.4:c.49634C>G (TTN)	NP_597681.4:p.Thr16545Ser
NR_038271.1:n.447-1421G>C (TTN-AS1)
NR_038272.1:n.2044-12693G>C (TTN-AS1)
XM_011511729.1:c.75350C>G (TTN)	XP_011510031.1:p.Thr25117Ser
XM_011511730.1:c.49244C>G (TTN)	XP_011510032.1:p.Thr16415Ser
XM_011511731.1:c.49103C>G (TTN)	XP_011510033.1:p.Thr16368Ser
XM_017004819.1:c.75146C>G (TTN)	XP_016860308.1:p.Thr25049Ser
XM_017004820.1:c.70544C>G (TTN)	XP_016860309.1:p.Thr23515Ser
XM_017004821.1:c.70541C>G (TTN)	XP_016860310.1:p.Thr23514Ser
XM_017004822.1:c.67583C>G (TTN)	XP_016860311.1:p.Thr22528Ser
XM_017004823.1:c.49199C>G (TTN)	XP_016860312.1:p.Thr16400Ser
XM_024453094.1:c.70694C>G (TTN)	XP_024308862.1:p.Thr23565Ser
XM_024453095.1:c.70691C>G (TTN)	XP_024308863.1:p.Thr23564Ser
XM_024453096.1:c.70124C>G (TTN)	XP_024308864.1:p.Thr23375Ser
XM_024453097.1:c.67466C>G (TTN)	XP_024308865.1:p.Thr22489Ser
XM_024453098.1:c.67385C>G (TTN)	XP_024308866.1:p.Thr22462Ser
XM_024453099.1:c.49148C>G (TTN)	XP_024308867.1:p.Thr16383Ser
XM_024453100.1:c.39002C>G (TTN)	XP_024308868.1:p.Thr13001Ser