Canonical Allele Identifier: CA349618690

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482925T>C (hg19) ; chr2:g.178618198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618198T>C , CM000664.2:g.178618198T>C	GRCh38
NC_000002.11:g.179482925T>C , CM000664.1:g.179482925T>C	GRCh37
NC_000002.10:g.179191170T>C	NCBI36
NG_011618.3:g.217605A>G , LRG_391:g.217605A>G
NG_051363.1:g.100372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39556A>G (TTN)	ENSP00000343764.6:p.Ser13186Gly
ENST00000342175.11:c.20641A>G (TTN)	ENSP00000340554.6:p.Ser6881Gly
ENST00000359218.10:c.20440A>G (TTN)	ENSP00000352154.5:p.Ser6814Gly
ENST00000342175.10:c.20641A>G (TTN)	ENSP00000340554.6:p.Ser6881Gly
ENST00000342992.10:c.39556A>G (TTN)	ENSP00000343764.6:p.Ser13186Gly
ENST00000359218.9:c.20440A>G (TTN)	ENSP00000352154.5:p.Ser6814Gly
ENST00000460472.6:c.20065A>G (TTN)	ENSP00000434586.1:p.Ser6689Gly
ENST00000589042.5:c.47260A>G (TTN) MANE Select	ENSP00000467141.1:p.Ser15754Gly
ENST00000591111.5:c.42337A>G (TTN)	ENSP00000465570.1:p.Ser14113Gly
ENST00000615779.4:c.42337A>G (TTN)	ENSP00000483597.1:p.Ser14113Gly
NM_001256850.1:c.42337A>G (TTN)	NP_001243779.1:p.Ser14113Gly
NM_001267550.2:c.47260A>G (TTN) MANE Select	NP_001254479.2:p.Ser15754Gly
NM_003319.4:c.20065A>G (TTN)	NP_003310.4:p.Ser6689Gly
NM_133378.4:c.39556A>G (TTN)	NP_596869.4:p.Ser13186Gly
NM_133432.3:c.20440A>G (TTN)	NP_597676.3:p.Ser6814Gly
NM_133437.4:c.20641A>G (TTN)	NP_597681.4:p.Ser6881Gly
NR_038271.1:n.1605-1555T>C (TTN-AS1)
XM_011511729.1:c.46357A>G (TTN)	XP_011510031.1:p.Ser15453Gly
XM_011511730.1:c.20251A>G (TTN)	XP_011510032.1:p.Ser6751Gly
XM_011511731.1:c.20110A>G (TTN)	XP_011510033.1:p.Ser6704Gly
XM_017004819.1:c.46153A>G (TTN)	XP_016860308.1:p.Ser15385Gly
XM_017004820.1:c.41551A>G (TTN)	XP_016860309.1:p.Ser13851Gly
XM_017004821.1:c.41548A>G (TTN)	XP_016860310.1:p.Ser13850Gly
XM_017004822.1:c.38590A>G (TTN)	XP_016860311.1:p.Ser12864Gly
XM_017004823.1:c.20206A>G (TTN)	XP_016860312.1:p.Ser6736Gly
XM_024453094.1:c.41701A>G (TTN)	XP_024308862.1:p.Ser13901Gly
XM_024453095.1:c.41698A>G (TTN)	XP_024308863.1:p.Ser13900Gly
XM_024453096.1:c.41131A>G (TTN)	XP_024308864.1:p.Ser13711Gly
XM_024453097.1:c.38473A>G (TTN)	XP_024308865.1:p.Ser12825Gly
XM_024453098.1:c.38392A>G (TTN)	XP_024308866.1:p.Ser12798Gly
XM_024453099.1:c.20155A>G (TTN)	XP_024308867.1:p.Ser6719Gly
XM_024453100.1:c.10009A>G (TTN)	XP_024308868.1:p.Ser3337Gly