Canonical Allele Identifier: CA349405204

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394762C>G (hg19) ; chr2:g.178530035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530035C>G , CM000664.2:g.178530035C>G	GRCh38
NC_000002.11:g.179394762C>G , CM000664.1:g.179394762C>G	GRCh37
NC_000002.10:g.179103008C>G	NCBI36
NG_011618.3:g.305768G>C , LRG_391:g.305768G>C
NG_051363.1:g.12209C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98752G>C (TTN)	ENSP00000343764.6:p.Asp32918His
ENST00000342175.11:c.79837G>C (TTN)	ENSP00000340554.6:p.Asp26613His
ENST00000359218.10:c.79636G>C (TTN)	ENSP00000352154.5:p.Asp26546His
ENST00000342175.10:c.79837G>C (TTN)	ENSP00000340554.6:p.Asp26613His
ENST00000342992.10:c.98752G>C (TTN)	ENSP00000343764.6:p.Asp32918His
ENST00000359218.9:c.79636G>C (TTN)	ENSP00000352154.5:p.Asp26546His
ENST00000460472.6:c.79261G>C (TTN)	ENSP00000434586.1:p.Asp26421His
ENST00000589042.5:c.106456G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp35486His
ENST00000591111.5:c.101533G>C (TTN)	ENSP00000465570.1:p.Asp33845His
ENST00000615779.4:c.101533G>C (TTN)	ENSP00000483597.1:p.Asp33845His
NM_001256850.1:c.101533G>C (TTN)	NP_001243779.1:p.Asp33845His
NM_001267550.2:c.106456G>C (TTN) MANE Select	NP_001254479.2:p.Asp35486His
NM_003319.4:c.79261G>C (TTN)	NP_003310.4:p.Asp26421His
NM_133378.4:c.98752G>C (TTN)	NP_596869.4:p.Asp32918His
NM_133432.3:c.79636G>C (TTN)	NP_597676.3:p.Asp26546His
NM_133437.4:c.79837G>C (TTN)	NP_597681.4:p.Asp26613His
NR_038271.1:n.446+6399C>G (TTN-AS1)
NR_038272.1:n.220-5697C>G (TTN-AS1)
XM_011511729.1:c.105553G>C (TTN)	XP_011510031.1:p.Asp35185His
XM_011511730.1:c.79447G>C (TTN)	XP_011510032.1:p.Asp26483His
XM_011511731.1:c.79306G>C (TTN)	XP_011510033.1:p.Asp26436His
XM_017004819.1:c.105349G>C (TTN)	XP_016860308.1:p.Asp35117His
XM_017004820.1:c.100747G>C (TTN)	XP_016860309.1:p.Asp33583His
XM_017004821.1:c.100744G>C (TTN)	XP_016860310.1:p.Asp33582His
XM_017004822.1:c.97786G>C (TTN)	XP_016860311.1:p.Asp32596His
XM_017004823.1:c.79402G>C (TTN)	XP_016860312.1:p.Asp26468His
XM_024453094.1:c.100897G>C (TTN)	XP_024308862.1:p.Asp33633His
XM_024453095.1:c.100894G>C (TTN)	XP_024308863.1:p.Asp33632His
XM_024453096.1:c.100327G>C (TTN)	XP_024308864.1:p.Asp33443His
XM_024453097.1:c.97669G>C (TTN)	XP_024308865.1:p.Asp32557His
XM_024453098.1:c.97588G>C (TTN)	XP_024308866.1:p.Asp32530His
XM_024453099.1:c.79351G>C (TTN)	XP_024308867.1:p.Asp26451His
XM_024453100.1:c.69205G>C (TTN)	XP_024308868.1:p.Asp23069His