Canonical Allele Identifier: CA430242526

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546868-T-C
• MyVariant Identifiers: chr2:g.179411595T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546868T>C , CM000664.2:g.178546868T>C	GRCh38
NC_000002.11:g.179411595T>C , CM000664.1:g.179411595T>C	GRCh37
NC_000002.10:g.179119841T>C	NCBI36
NG_011618.3:g.288935A>G , LRG_391:g.288935A>G
NG_051363.1:g.29042T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86856A>G (TTN)	ENSP00000343764.6:p.Arg28952=
ENST00000342175.11:c.67941A>G (TTN)	ENSP00000340554.6:p.Arg22647=
ENST00000359218.10:c.67740A>G (TTN)	ENSP00000352154.5:p.Arg22580=
ENST00000342175.10:c.67941A>G (TTN)	ENSP00000340554.6:p.Arg22647=
ENST00000342992.10:c.86856A>G (TTN)	ENSP00000343764.6:p.Arg28952=
ENST00000359218.9:c.67740A>G (TTN)	ENSP00000352154.5:p.Arg22580=
ENST00000460472.6:c.67365A>G (TTN)	ENSP00000434586.1:p.Arg22455=
ENST00000589042.5:c.94560A>G (TTN) MANE Select	ENSP00000467141.1:p.Arg31520=
ENST00000591111.5:c.89637A>G (TTN)	ENSP00000465570.1:p.Arg29879=
ENST00000615779.4:c.89637A>G (TTN)	ENSP00000483597.1:p.Arg29879=
NM_001256850.1:c.89637A>G (TTN)	NP_001243779.1:p.Arg29879=
NM_001267550.2:c.94560A>G (TTN) MANE Select	NP_001254479.2:p.Arg31520=
NM_003319.4:c.67365A>G (TTN)	NP_003310.4:p.Arg22455=
NM_133378.4:c.86856A>G (TTN)	NP_596869.4:p.Arg28952=
NM_133432.3:c.67740A>G (TTN)	NP_597676.3:p.Arg22580=
NM_133437.4:c.67941A>G (TTN)	NP_597681.4:p.Arg22647=
NR_038271.1:n.446+23232T>C (TTN-AS1)
NR_038272.1:n.2043+4507T>C (TTN-AS1)
XM_011511729.1:c.93657A>G (TTN)	XP_011510031.1:p.Arg31219=
XM_011511730.1:c.67551A>G (TTN)	XP_011510032.1:p.Arg22517=
XM_011511731.1:c.67410A>G (TTN)	XP_011510033.1:p.Arg22470=
XM_017004819.1:c.93453A>G (TTN)	XP_016860308.1:p.Arg31151=
XM_017004820.1:c.88851A>G (TTN)	XP_016860309.1:p.Arg29617=
XM_017004821.1:c.88848A>G (TTN)	XP_016860310.1:p.Arg29616=
XM_017004822.1:c.85890A>G (TTN)	XP_016860311.1:p.Arg28630=
XM_017004823.1:c.67506A>G (TTN)	XP_016860312.1:p.Arg22502=
XM_024453094.1:c.89001A>G (TTN)	XP_024308862.1:p.Arg29667=
XM_024453095.1:c.88998A>G (TTN)	XP_024308863.1:p.Arg29666=
XM_024453096.1:c.88431A>G (TTN)	XP_024308864.1:p.Arg29477=
XM_024453097.1:c.85773A>G (TTN)	XP_024308865.1:p.Arg28591=
XM_024453098.1:c.85692A>G (TTN)	XP_024308866.1:p.Arg28564=
XM_024453099.1:c.67455A>G (TTN)	XP_024308867.1:p.Arg22485=
XM_024453100.1:c.57309A>G (TTN)	XP_024308868.1:p.Arg19103=