Canonical Allele Identifier: CA349664707

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178575993-T-C
• MyVariant Identifiers: chr2:g.179440720T>C (hg19) ; chr2:g.178575993T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575993T>C , CM000664.2:g.178575993T>C	GRCh38
NC_000002.11:g.179440720T>C , CM000664.1:g.179440720T>C	GRCh37
NC_000002.10:g.179148966T>C	NCBI36
NG_011618.3:g.259810A>G , LRG_391:g.259810A>G
NG_051363.1:g.58167T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.62435A>G (TTN)	ENSP00000343764.6:p.Lys20812Arg
ENST00000342175.11:c.43520A>G (TTN)	ENSP00000340554.6:p.Lys14507Arg
ENST00000359218.10:c.43319A>G (TTN)	ENSP00000352154.5:p.Lys14440Arg
ENST00000342175.10:c.43520A>G (TTN)	ENSP00000340554.6:p.Lys14507Arg
ENST00000342992.10:c.62435A>G (TTN)	ENSP00000343764.6:p.Lys20812Arg
ENST00000359218.9:c.43319A>G (TTN)	ENSP00000352154.5:p.Lys14440Arg
ENST00000460472.6:c.42944A>G (TTN)	ENSP00000434586.1:p.Lys14315Arg
ENST00000589042.5:c.70139A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys23380Arg
ENST00000591111.5:c.65216A>G (TTN)	ENSP00000465570.1:p.Lys21739Arg
ENST00000615779.4:c.65216A>G (TTN)	ENSP00000483597.1:p.Lys21739Arg
NM_001256850.1:c.65216A>G (TTN)	NP_001243779.1:p.Lys21739Arg
NM_001267550.2:c.70139A>G (TTN) MANE Select	NP_001254479.2:p.Lys23380Arg
NM_003319.4:c.42944A>G (TTN)	NP_003310.4:p.Lys14315Arg
NM_133378.4:c.62435A>G (TTN)	NP_596869.4:p.Lys20812Arg
NM_133432.3:c.43319A>G (TTN)	NP_597676.3:p.Lys14440Arg
NM_133437.4:c.43520A>G (TTN)	NP_597681.4:p.Lys14507Arg
NR_038271.1:n.596+4544T>C (TTN-AS1)
NR_038272.1:n.2044-6579T>C (TTN-AS1)
XM_011511729.1:c.69236A>G (TTN)	XP_011510031.1:p.Lys23079Arg
XM_011511730.1:c.43130A>G (TTN)	XP_011510032.1:p.Lys14377Arg
XM_011511731.1:c.42989A>G (TTN)	XP_011510033.1:p.Lys14330Arg
XM_017004819.1:c.69032A>G (TTN)	XP_016860308.1:p.Lys23011Arg
XM_017004820.1:c.64430A>G (TTN)	XP_016860309.1:p.Lys21477Arg
XM_017004821.1:c.64427A>G (TTN)	XP_016860310.1:p.Lys21476Arg
XM_017004822.1:c.61469A>G (TTN)	XP_016860311.1:p.Lys20490Arg
XM_017004823.1:c.43085A>G (TTN)	XP_016860312.1:p.Lys14362Arg
XM_024453094.1:c.64580A>G (TTN)	XP_024308862.1:p.Lys21527Arg
XM_024453095.1:c.64577A>G (TTN)	XP_024308863.1:p.Lys21526Arg
XM_024453096.1:c.64010A>G (TTN)	XP_024308864.1:p.Lys21337Arg
XM_024453097.1:c.61352A>G (TTN)	XP_024308865.1:p.Lys20451Arg
XM_024453098.1:c.61271A>G (TTN)	XP_024308866.1:p.Lys20424Arg
XM_024453099.1:c.43034A>G (TTN)	XP_024308867.1:p.Lys14345Arg
XM_024453100.1:c.32888A>G (TTN)	XP_024308868.1:p.Lys10963Arg