Canonical Allele Identifier: CA349405223

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530041-T-G
• MyVariant Identifiers: chr2:g.179394768T>G (hg19) ; chr2:g.178530041T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530041T>G , CM000664.2:g.178530041T>G	GRCh38
NC_000002.11:g.179394768T>G , CM000664.1:g.179394768T>G	GRCh37
NC_000002.10:g.179103014T>G	NCBI36
NG_011618.3:g.305762A>C , LRG_391:g.305762A>C
NG_051363.1:g.12215T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98746A>C (TTN)	ENSP00000343764.6:p.Thr32916Pro
ENST00000342175.11:c.79831A>C (TTN)	ENSP00000340554.6:p.Thr26611Pro
ENST00000359218.10:c.79630A>C (TTN)	ENSP00000352154.5:p.Thr26544Pro
ENST00000342175.10:c.79831A>C (TTN)	ENSP00000340554.6:p.Thr26611Pro
ENST00000342992.10:c.98746A>C (TTN)	ENSP00000343764.6:p.Thr32916Pro
ENST00000359218.9:c.79630A>C (TTN)	ENSP00000352154.5:p.Thr26544Pro
ENST00000460472.6:c.79255A>C (TTN)	ENSP00000434586.1:p.Thr26419Pro
ENST00000589042.5:c.106450A>C (TTN) MANE Select	ENSP00000467141.1:p.Thr35484Pro
ENST00000591111.5:c.101527A>C (TTN)	ENSP00000465570.1:p.Thr33843Pro
ENST00000615779.4:c.101527A>C (TTN)	ENSP00000483597.1:p.Thr33843Pro
NM_001256850.1:c.101527A>C (TTN)	NP_001243779.1:p.Thr33843Pro
NM_001267550.2:c.106450A>C (TTN) MANE Select	NP_001254479.2:p.Thr35484Pro
NM_003319.4:c.79255A>C (TTN)	NP_003310.4:p.Thr26419Pro
NM_133378.4:c.98746A>C (TTN)	NP_596869.4:p.Thr32916Pro
NM_133432.3:c.79630A>C (TTN)	NP_597676.3:p.Thr26544Pro
NM_133437.4:c.79831A>C (TTN)	NP_597681.4:p.Thr26611Pro
NR_038271.1:n.446+6405T>G (TTN-AS1)
NR_038272.1:n.220-5691T>G (TTN-AS1)
XM_011511729.1:c.105547A>C (TTN)	XP_011510031.1:p.Thr35183Pro
XM_011511730.1:c.79441A>C (TTN)	XP_011510032.1:p.Thr26481Pro
XM_011511731.1:c.79300A>C (TTN)	XP_011510033.1:p.Thr26434Pro
XM_017004819.1:c.105343A>C (TTN)	XP_016860308.1:p.Thr35115Pro
XM_017004820.1:c.100741A>C (TTN)	XP_016860309.1:p.Thr33581Pro
XM_017004821.1:c.100738A>C (TTN)	XP_016860310.1:p.Thr33580Pro
XM_017004822.1:c.97780A>C (TTN)	XP_016860311.1:p.Thr32594Pro
XM_017004823.1:c.79396A>C (TTN)	XP_016860312.1:p.Thr26466Pro
XM_024453094.1:c.100891A>C (TTN)	XP_024308862.1:p.Thr33631Pro
XM_024453095.1:c.100888A>C (TTN)	XP_024308863.1:p.Thr33630Pro
XM_024453096.1:c.100321A>C (TTN)	XP_024308864.1:p.Thr33441Pro
XM_024453097.1:c.97663A>C (TTN)	XP_024308865.1:p.Thr32555Pro
XM_024453098.1:c.97582A>C (TTN)	XP_024308866.1:p.Thr32528Pro
XM_024453099.1:c.79345A>C (TTN)	XP_024308867.1:p.Thr26449Pro
XM_024453100.1:c.69199A>C (TTN)	XP_024308868.1:p.Thr23067Pro