Canonical Allele Identifier: CA349454744

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1695970580
• gnomAD v3: 2-178544204-T-G
• gnomAD v4: 2-178544204-T-G
• MyVariant Identifiers: chr2:g.179408931T>G (hg19) ; chr2:g.178544204T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544204T>G , CM000664.2:g.178544204T>G	GRCh38
NC_000002.11:g.179408931T>G , CM000664.1:g.179408931T>G	GRCh37
NC_000002.10:g.179117177T>G	NCBI36
NG_011618.3:g.291599A>C , LRG_391:g.291599A>C
NG_051363.1:g.26378T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88321A>C (TTN)	ENSP00000343764.6:p.Ile29441Leu
ENST00000342175.11:c.69406A>C (TTN)	ENSP00000340554.6:p.Ile23136Leu
ENST00000359218.10:c.69205A>C (TTN)	ENSP00000352154.5:p.Ile23069Leu
ENST00000342175.10:c.69406A>C (TTN)	ENSP00000340554.6:p.Ile23136Leu
ENST00000342992.10:c.88321A>C (TTN)	ENSP00000343764.6:p.Ile29441Leu
ENST00000359218.9:c.69205A>C (TTN)	ENSP00000352154.5:p.Ile23069Leu
ENST00000460472.6:c.68830A>C (TTN)	ENSP00000434586.1:p.Ile22944Leu
ENST00000589042.5:c.96025A>C (TTN) MANE Select	ENSP00000467141.1:p.Ile32009Leu
ENST00000591111.5:c.91102A>C (TTN)	ENSP00000465570.1:p.Ile30368Leu
ENST00000615779.4:c.91102A>C (TTN)	ENSP00000483597.1:p.Ile30368Leu
NM_001256850.1:c.91102A>C (TTN)	NP_001243779.1:p.Ile30368Leu
NM_001267550.2:c.96025A>C (TTN) MANE Select	NP_001254479.2:p.Ile32009Leu
NM_003319.4:c.68830A>C (TTN)	NP_003310.4:p.Ile22944Leu
NM_133378.4:c.88321A>C (TTN)	NP_596869.4:p.Ile29441Leu
NM_133432.3:c.69205A>C (TTN)	NP_597676.3:p.Ile23069Leu
NM_133437.4:c.69406A>C (TTN)	NP_597681.4:p.Ile23136Leu
NR_038271.1:n.446+20568T>G (TTN-AS1)
NR_038272.1:n.2043+1843T>G (TTN-AS1)
XM_011511729.1:c.95122A>C (TTN)	XP_011510031.1:p.Ile31708Leu
XM_011511730.1:c.69016A>C (TTN)	XP_011510032.1:p.Ile23006Leu
XM_011511731.1:c.68875A>C (TTN)	XP_011510033.1:p.Ile22959Leu
XM_017004819.1:c.94918A>C (TTN)	XP_016860308.1:p.Ile31640Leu
XM_017004820.1:c.90316A>C (TTN)	XP_016860309.1:p.Ile30106Leu
XM_017004821.1:c.90313A>C (TTN)	XP_016860310.1:p.Ile30105Leu
XM_017004822.1:c.87355A>C (TTN)	XP_016860311.1:p.Ile29119Leu
XM_017004823.1:c.68971A>C (TTN)	XP_016860312.1:p.Ile22991Leu
XM_024453094.1:c.90466A>C (TTN)	XP_024308862.1:p.Ile30156Leu
XM_024453095.1:c.90463A>C (TTN)	XP_024308863.1:p.Ile30155Leu
XM_024453096.1:c.89896A>C (TTN)	XP_024308864.1:p.Ile29966Leu
XM_024453097.1:c.87238A>C (TTN)	XP_024308865.1:p.Ile29080Leu
XM_024453098.1:c.87157A>C (TTN)	XP_024308866.1:p.Ile29053Leu
XM_024453099.1:c.68920A>C (TTN)	XP_024308867.1:p.Ile22974Leu
XM_024453100.1:c.58774A>C (TTN)	XP_024308868.1:p.Ile19592Leu