Canonical Allele Identifier: CA349458189

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179409205T>A (hg19) ; chr2:g.178544478T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544478T>A , CM000664.2:g.178544478T>A	GRCh38
NC_000002.11:g.179409205T>A , CM000664.1:g.179409205T>A	GRCh37
NC_000002.10:g.179117451T>A	NCBI36
NG_011618.3:g.291325A>T , LRG_391:g.291325A>T
NG_051363.1:g.26652T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88047A>T (TTN)	ENSP00000343764.6:p.Arg29349Ser
ENST00000342175.11:c.69132A>T (TTN)	ENSP00000340554.6:p.Arg23044Ser
ENST00000359218.10:c.68931A>T (TTN)	ENSP00000352154.5:p.Arg22977Ser
ENST00000342175.10:c.69132A>T (TTN)	ENSP00000340554.6:p.Arg23044Ser
ENST00000342992.10:c.88047A>T (TTN)	ENSP00000343764.6:p.Arg29349Ser
ENST00000359218.9:c.68931A>T (TTN)	ENSP00000352154.5:p.Arg22977Ser
ENST00000460472.6:c.68556A>T (TTN)	ENSP00000434586.1:p.Arg22852Ser
ENST00000589042.5:c.95751A>T (TTN) MANE Select	ENSP00000467141.1:p.Arg31917Ser
ENST00000591111.5:c.90828A>T (TTN)	ENSP00000465570.1:p.Arg30276Ser
ENST00000615779.4:c.90828A>T (TTN)	ENSP00000483597.1:p.Arg30276Ser
NM_001256850.1:c.90828A>T (TTN)	NP_001243779.1:p.Arg30276Ser
NM_001267550.2:c.95751A>T (TTN) MANE Select	NP_001254479.2:p.Arg31917Ser
NM_003319.4:c.68556A>T (TTN)	NP_003310.4:p.Arg22852Ser
NM_133378.4:c.88047A>T (TTN)	NP_596869.4:p.Arg29349Ser
NM_133432.3:c.68931A>T (TTN)	NP_597676.3:p.Arg22977Ser
NM_133437.4:c.69132A>T (TTN)	NP_597681.4:p.Arg23044Ser
NR_038271.1:n.446+20842T>A (TTN-AS1)
NR_038272.1:n.2043+2117T>A (TTN-AS1)
XM_011511729.1:c.94848A>T (TTN)	XP_011510031.1:p.Arg31616Ser
XM_011511730.1:c.68742A>T (TTN)	XP_011510032.1:p.Arg22914Ser
XM_011511731.1:c.68601A>T (TTN)	XP_011510033.1:p.Arg22867Ser
XM_017004819.1:c.94644A>T (TTN)	XP_016860308.1:p.Arg31548Ser
XM_017004820.1:c.90042A>T (TTN)	XP_016860309.1:p.Arg30014Ser
XM_017004821.1:c.90039A>T (TTN)	XP_016860310.1:p.Arg30013Ser
XM_017004822.1:c.87081A>T (TTN)	XP_016860311.1:p.Arg29027Ser
XM_017004823.1:c.68697A>T (TTN)	XP_016860312.1:p.Arg22899Ser
XM_024453094.1:c.90192A>T (TTN)	XP_024308862.1:p.Arg30064Ser
XM_024453095.1:c.90189A>T (TTN)	XP_024308863.1:p.Arg30063Ser
XM_024453096.1:c.89622A>T (TTN)	XP_024308864.1:p.Arg29874Ser
XM_024453097.1:c.86964A>T (TTN)	XP_024308865.1:p.Arg28988Ser
XM_024453098.1:c.86883A>T (TTN)	XP_024308866.1:p.Arg28961Ser
XM_024453099.1:c.68646A>T (TTN)	XP_024308867.1:p.Arg22882Ser
XM_024453100.1:c.58500A>T (TTN)	XP_024308868.1:p.Arg19500Ser