Canonical Allele Identifier: CA349406994

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395223T>G (hg19) ; chr2:g.178530496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530496T>G , CM000664.2:g.178530496T>G	GRCh38
NC_000002.11:g.179395223T>G , CM000664.1:g.179395223T>G	GRCh37
NC_000002.10:g.179103469T>G	NCBI36
NG_011618.3:g.305307A>C , LRG_391:g.305307A>C
NG_051363.1:g.12670T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98415A>C (TTN)	ENSP00000343764.6:p.Gln32805His
ENST00000342175.11:c.79500A>C (TTN)	ENSP00000340554.6:p.Gln26500His
ENST00000359218.10:c.79299A>C (TTN)	ENSP00000352154.5:p.Gln26433His
ENST00000342175.10:c.79500A>C (TTN)	ENSP00000340554.6:p.Gln26500His
ENST00000342992.10:c.98415A>C (TTN)	ENSP00000343764.6:p.Gln32805His
ENST00000359218.9:c.79299A>C (TTN)	ENSP00000352154.5:p.Gln26433His
ENST00000460472.6:c.78924A>C (TTN)	ENSP00000434586.1:p.Gln26308His
ENST00000589042.5:c.106119A>C (TTN) MANE Select	ENSP00000467141.1:p.Gln35373His
ENST00000591111.5:c.101196A>C (TTN)	ENSP00000465570.1:p.Gln33732His
ENST00000615779.4:c.101196A>C (TTN)	ENSP00000483597.1:p.Gln33732His
NM_001256850.1:c.101196A>C (TTN)	NP_001243779.1:p.Gln33732His
NM_001267550.2:c.106119A>C (TTN) MANE Select	NP_001254479.2:p.Gln35373His
NM_003319.4:c.78924A>C (TTN)	NP_003310.4:p.Gln26308His
NM_133378.4:c.98415A>C (TTN)	NP_596869.4:p.Gln32805His
NM_133432.3:c.79299A>C (TTN)	NP_597676.3:p.Gln26433His
NM_133437.4:c.79500A>C (TTN)	NP_597681.4:p.Gln26500His
NR_038271.1:n.446+6860T>G (TTN-AS1)
NR_038272.1:n.220-5236T>G (TTN-AS1)
XM_011511729.1:c.105216A>C (TTN)	XP_011510031.1:p.Gln35072His
XM_011511730.1:c.79110A>C (TTN)	XP_011510032.1:p.Gln26370His
XM_011511731.1:c.78969A>C (TTN)	XP_011510033.1:p.Gln26323His
XM_017004819.1:c.105012A>C (TTN)	XP_016860308.1:p.Gln35004His
XM_017004820.1:c.100410A>C (TTN)	XP_016860309.1:p.Gln33470His
XM_017004821.1:c.100407A>C (TTN)	XP_016860310.1:p.Gln33469His
XM_017004822.1:c.97449A>C (TTN)	XP_016860311.1:p.Gln32483His
XM_017004823.1:c.79065A>C (TTN)	XP_016860312.1:p.Gln26355His
XM_024453094.1:c.100560A>C (TTN)	XP_024308862.1:p.Gln33520His
XM_024453095.1:c.100557A>C (TTN)	XP_024308863.1:p.Gln33519His
XM_024453096.1:c.99990A>C (TTN)	XP_024308864.1:p.Gln33330His
XM_024453097.1:c.97332A>C (TTN)	XP_024308865.1:p.Gln32444His
XM_024453098.1:c.97251A>C (TTN)	XP_024308866.1:p.Gln32417His
XM_024453099.1:c.79014A>C (TTN)	XP_024308867.1:p.Gln26338His
XM_024453100.1:c.68868A>C (TTN)	XP_024308868.1:p.Gln22956His