Canonical Allele Identifier: CA349411952

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179397000T>G (hg19) ; chr2:g.178532273T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532273T>G , CM000664.2:g.178532273T>G	GRCh38
NC_000002.11:g.179397000T>G , CM000664.1:g.179397000T>G	GRCh37
NC_000002.10:g.179105246T>G	NCBI36
NG_011618.3:g.303530A>C , LRG_391:g.303530A>C
NG_051363.1:g.14447T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96638A>C (TTN)	ENSP00000343764.6:p.Gln32213Pro
ENST00000342175.11:c.77723A>C (TTN)	ENSP00000340554.6:p.Gln25908Pro
ENST00000359218.10:c.77522A>C (TTN)	ENSP00000352154.5:p.Gln25841Pro
ENST00000342175.10:c.77723A>C (TTN)	ENSP00000340554.6:p.Gln25908Pro
ENST00000342992.10:c.96638A>C (TTN)	ENSP00000343764.6:p.Gln32213Pro
ENST00000359218.9:c.77522A>C (TTN)	ENSP00000352154.5:p.Gln25841Pro
ENST00000460472.6:c.77147A>C (TTN)	ENSP00000434586.1:p.Gln25716Pro
ENST00000589042.5:c.104342A>C (TTN) MANE Select	ENSP00000467141.1:p.Gln34781Pro
ENST00000591111.5:c.99419A>C (TTN)	ENSP00000465570.1:p.Gln33140Pro
ENST00000615779.4:c.99419A>C (TTN)	ENSP00000483597.1:p.Gln33140Pro
NM_001256850.1:c.99419A>C (TTN)	NP_001243779.1:p.Gln33140Pro
NM_001267550.2:c.104342A>C (TTN) MANE Select	NP_001254479.2:p.Gln34781Pro
NM_003319.4:c.77147A>C (TTN)	NP_003310.4:p.Gln25716Pro
NM_133378.4:c.96638A>C (TTN)	NP_596869.4:p.Gln32213Pro
NM_133432.3:c.77522A>C (TTN)	NP_597676.3:p.Gln25841Pro
NM_133437.4:c.77723A>C (TTN)	NP_597681.4:p.Gln25908Pro
NR_038271.1:n.446+8637T>G (TTN-AS1)
NR_038272.1:n.220-3459T>G (TTN-AS1)
XM_011511729.1:c.103439A>C (TTN)	XP_011510031.1:p.Gln34480Pro
XM_011511730.1:c.77333A>C (TTN)	XP_011510032.1:p.Gln25778Pro
XM_011511731.1:c.77192A>C (TTN)	XP_011510033.1:p.Gln25731Pro
XM_017004819.1:c.103235A>C (TTN)	XP_016860308.1:p.Gln34412Pro
XM_017004820.1:c.98633A>C (TTN)	XP_016860309.1:p.Gln32878Pro
XM_017004821.1:c.98630A>C (TTN)	XP_016860310.1:p.Gln32877Pro
XM_017004822.1:c.95672A>C (TTN)	XP_016860311.1:p.Gln31891Pro
XM_017004823.1:c.77288A>C (TTN)	XP_016860312.1:p.Gln25763Pro
XM_024453094.1:c.98783A>C (TTN)	XP_024308862.1:p.Gln32928Pro
XM_024453095.1:c.98780A>C (TTN)	XP_024308863.1:p.Gln32927Pro
XM_024453096.1:c.98213A>C (TTN)	XP_024308864.1:p.Gln32738Pro
XM_024453097.1:c.95555A>C (TTN)	XP_024308865.1:p.Gln31852Pro
XM_024453098.1:c.95474A>C (TTN)	XP_024308866.1:p.Gln31825Pro
XM_024453099.1:c.77237A>C (TTN)	XP_024308867.1:p.Gln25746Pro
XM_024453100.1:c.67091A>C (TTN)	XP_024308868.1:p.Gln22364Pro