Canonical Allele Identifier: CA349618108

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482776T>A (hg19) ; chr2:g.178618049T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618049T>A , CM000664.2:g.178618049T>A	GRCh38
NC_000002.11:g.179482776T>A , CM000664.1:g.179482776T>A	GRCh37
NC_000002.10:g.179191021T>A	NCBI36
NG_011618.3:g.217754A>T , LRG_391:g.217754A>T
NG_051363.1:g.100223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39598A>T (TTN)	ENSP00000343764.6:p.Thr13200Ser
ENST00000342175.11:c.20683A>T (TTN)	ENSP00000340554.6:p.Thr6895Ser
ENST00000359218.10:c.20482A>T (TTN)	ENSP00000352154.5:p.Thr6828Ser
ENST00000342175.10:c.20683A>T (TTN)	ENSP00000340554.6:p.Thr6895Ser
ENST00000342992.10:c.39598A>T (TTN)	ENSP00000343764.6:p.Thr13200Ser
ENST00000359218.9:c.20482A>T (TTN)	ENSP00000352154.5:p.Thr6828Ser
ENST00000460472.6:c.20107A>T (TTN)	ENSP00000434586.1:p.Thr6703Ser
ENST00000589042.5:c.47302A>T (TTN) MANE Select	ENSP00000467141.1:p.Thr15768Ser
ENST00000591111.5:c.42379A>T (TTN)	ENSP00000465570.1:p.Thr14127Ser
ENST00000615779.4:c.42379A>T (TTN)	ENSP00000483597.1:p.Thr14127Ser
NM_001256850.1:c.42379A>T (TTN)	NP_001243779.1:p.Thr14127Ser
NM_001267550.2:c.47302A>T (TTN) MANE Select	NP_001254479.2:p.Thr15768Ser
NM_003319.4:c.20107A>T (TTN)	NP_003310.4:p.Thr6703Ser
NM_133378.4:c.39598A>T (TTN)	NP_596869.4:p.Thr13200Ser
NM_133432.3:c.20482A>T (TTN)	NP_597676.3:p.Thr6828Ser
NM_133437.4:c.20683A>T (TTN)	NP_597681.4:p.Thr6895Ser
NR_038271.1:n.1605-1704T>A (TTN-AS1)
XM_011511729.1:c.46399A>T (TTN)	XP_011510031.1:p.Thr15467Ser
XM_011511730.1:c.20293A>T (TTN)	XP_011510032.1:p.Thr6765Ser
XM_011511731.1:c.20152A>T (TTN)	XP_011510033.1:p.Thr6718Ser
XM_017004819.1:c.46195A>T (TTN)	XP_016860308.1:p.Thr15399Ser
XM_017004820.1:c.41593A>T (TTN)	XP_016860309.1:p.Thr13865Ser
XM_017004821.1:c.41590A>T (TTN)	XP_016860310.1:p.Thr13864Ser
XM_017004822.1:c.38632A>T (TTN)	XP_016860311.1:p.Thr12878Ser
XM_017004823.1:c.20248A>T (TTN)	XP_016860312.1:p.Thr6750Ser
XM_024453094.1:c.41743A>T (TTN)	XP_024308862.1:p.Thr13915Ser
XM_024453095.1:c.41740A>T (TTN)	XP_024308863.1:p.Thr13914Ser
XM_024453096.1:c.41173A>T (TTN)	XP_024308864.1:p.Thr13725Ser
XM_024453097.1:c.38515A>T (TTN)	XP_024308865.1:p.Thr12839Ser
XM_024453098.1:c.38434A>T (TTN)	XP_024308866.1:p.Thr12812Ser
XM_024453099.1:c.20197A>T (TTN)	XP_024308867.1:p.Thr6733Ser
XM_024453100.1:c.10051A>T (TTN)	XP_024308868.1:p.Thr3351Ser