Canonical Allele Identifier: CA349450925

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543890-A-G
• MyVariant Identifiers: chr2:g.179408617A>G (hg19) ; chr2:g.178543890A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543890A>G , CM000664.2:g.178543890A>G	GRCh38
NC_000002.11:g.179408617A>G , CM000664.1:g.179408617A>G	GRCh37
NC_000002.10:g.179116863A>G	NCBI36
NG_011618.3:g.291913T>C , LRG_391:g.291913T>C
NG_051363.1:g.26064A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88550T>C (TTN)	ENSP00000343764.6:p.Ile29517Thr
ENST00000342175.11:c.69635T>C (TTN)	ENSP00000340554.6:p.Ile23212Thr
ENST00000359218.10:c.69434T>C (TTN)	ENSP00000352154.5:p.Ile23145Thr
ENST00000342175.10:c.69635T>C (TTN)	ENSP00000340554.6:p.Ile23212Thr
ENST00000342992.10:c.88550T>C (TTN)	ENSP00000343764.6:p.Ile29517Thr
ENST00000359218.9:c.69434T>C (TTN)	ENSP00000352154.5:p.Ile23145Thr
ENST00000460472.6:c.69059T>C (TTN)	ENSP00000434586.1:p.Ile23020Thr
ENST00000589042.5:c.96254T>C (TTN) MANE Select	ENSP00000467141.1:p.Ile32085Thr
ENST00000591111.5:c.91331T>C (TTN)	ENSP00000465570.1:p.Ile30444Thr
ENST00000615779.4:c.91331T>C (TTN)	ENSP00000483597.1:p.Ile30444Thr
NM_001256850.1:c.91331T>C (TTN)	NP_001243779.1:p.Ile30444Thr
NM_001267550.2:c.96254T>C (TTN) MANE Select	NP_001254479.2:p.Ile32085Thr
NM_003319.4:c.69059T>C (TTN)	NP_003310.4:p.Ile23020Thr
NM_133378.4:c.88550T>C (TTN)	NP_596869.4:p.Ile29517Thr
NM_133432.3:c.69434T>C (TTN)	NP_597676.3:p.Ile23145Thr
NM_133437.4:c.69635T>C (TTN)	NP_597681.4:p.Ile23212Thr
NR_038271.1:n.446+20254A>G (TTN-AS1)
NR_038272.1:n.2043+1529A>G (TTN-AS1)
XM_011511729.1:c.95351T>C (TTN)	XP_011510031.1:p.Ile31784Thr
XM_011511730.1:c.69245T>C (TTN)	XP_011510032.1:p.Ile23082Thr
XM_011511731.1:c.69104T>C (TTN)	XP_011510033.1:p.Ile23035Thr
XM_017004819.1:c.95147T>C (TTN)	XP_016860308.1:p.Ile31716Thr
XM_017004820.1:c.90545T>C (TTN)	XP_016860309.1:p.Ile30182Thr
XM_017004821.1:c.90542T>C (TTN)	XP_016860310.1:p.Ile30181Thr
XM_017004822.1:c.87584T>C (TTN)	XP_016860311.1:p.Ile29195Thr
XM_017004823.1:c.69200T>C (TTN)	XP_016860312.1:p.Ile23067Thr
XM_024453094.1:c.90695T>C (TTN)	XP_024308862.1:p.Ile30232Thr
XM_024453095.1:c.90692T>C (TTN)	XP_024308863.1:p.Ile30231Thr
XM_024453096.1:c.90125T>C (TTN)	XP_024308864.1:p.Ile30042Thr
XM_024453097.1:c.87467T>C (TTN)	XP_024308865.1:p.Ile29156Thr
XM_024453098.1:c.87386T>C (TTN)	XP_024308866.1:p.Ile29129Thr
XM_024453099.1:c.69149T>C (TTN)	XP_024308867.1:p.Ile23050Thr
XM_024453100.1:c.59003T>C (TTN)	XP_024308868.1:p.Ile19668Thr