Canonical Allele Identifier: CA349471349

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411474A>G (hg19) ; chr2:g.178546747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546747A>G , CM000664.2:g.178546747A>G	GRCh38
NC_000002.11:g.179411474A>G , CM000664.1:g.179411474A>G	GRCh37
NC_000002.10:g.179119720A>G	NCBI36
NG_011618.3:g.289056T>C , LRG_391:g.289056T>C
NG_051363.1:g.28921A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86977T>C (TTN)	ENSP00000343764.6:p.Tyr28993His
ENST00000342175.11:c.68062T>C (TTN)	ENSP00000340554.6:p.Tyr22688His
ENST00000359218.10:c.67861T>C (TTN)	ENSP00000352154.5:p.Tyr22621His
ENST00000342175.10:c.68062T>C (TTN)	ENSP00000340554.6:p.Tyr22688His
ENST00000342992.10:c.86977T>C (TTN)	ENSP00000343764.6:p.Tyr28993His
ENST00000359218.9:c.67861T>C (TTN)	ENSP00000352154.5:p.Tyr22621His
ENST00000460472.6:c.67486T>C (TTN)	ENSP00000434586.1:p.Tyr22496His
ENST00000589042.5:c.94681T>C (TTN) MANE Select	ENSP00000467141.1:p.Tyr31561His
ENST00000591111.5:c.89758T>C (TTN)	ENSP00000465570.1:p.Tyr29920His
ENST00000615779.4:c.89758T>C (TTN)	ENSP00000483597.1:p.Tyr29920His
NM_001256850.1:c.89758T>C (TTN)	NP_001243779.1:p.Tyr29920His
NM_001267550.2:c.94681T>C (TTN) MANE Select	NP_001254479.2:p.Tyr31561His
NM_003319.4:c.67486T>C (TTN)	NP_003310.4:p.Tyr22496His
NM_133378.4:c.86977T>C (TTN)	NP_596869.4:p.Tyr28993His
NM_133432.3:c.67861T>C (TTN)	NP_597676.3:p.Tyr22621His
NM_133437.4:c.68062T>C (TTN)	NP_597681.4:p.Tyr22688His
NR_038271.1:n.446+23111A>G (TTN-AS1)
NR_038272.1:n.2043+4386A>G (TTN-AS1)
XM_011511729.1:c.93778T>C (TTN)	XP_011510031.1:p.Tyr31260His
XM_011511730.1:c.67672T>C (TTN)	XP_011510032.1:p.Tyr22558His
XM_011511731.1:c.67531T>C (TTN)	XP_011510033.1:p.Tyr22511His
XM_017004819.1:c.93574T>C (TTN)	XP_016860308.1:p.Tyr31192His
XM_017004820.1:c.88972T>C (TTN)	XP_016860309.1:p.Tyr29658His
XM_017004821.1:c.88969T>C (TTN)	XP_016860310.1:p.Tyr29657His
XM_017004822.1:c.86011T>C (TTN)	XP_016860311.1:p.Tyr28671His
XM_017004823.1:c.67627T>C (TTN)	XP_016860312.1:p.Tyr22543His
XM_024453094.1:c.89122T>C (TTN)	XP_024308862.1:p.Tyr29708His
XM_024453095.1:c.89119T>C (TTN)	XP_024308863.1:p.Tyr29707His
XM_024453096.1:c.88552T>C (TTN)	XP_024308864.1:p.Tyr29518His
XM_024453097.1:c.85894T>C (TTN)	XP_024308865.1:p.Tyr28632His
XM_024453098.1:c.85813T>C (TTN)	XP_024308866.1:p.Tyr28605His
XM_024453099.1:c.67576T>C (TTN)	XP_024308867.1:p.Tyr22526His
XM_024453100.1:c.57430T>C (TTN)	XP_024308868.1:p.Tyr19144His