Canonical Allele Identifier: CA60953272

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs925930002
• MyVariant Identifiers: chr2:g.179395026A>C (hg19) ; chr2:g.178530299A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530299A>C , CM000664.2:g.178530299A>C	GRCh38
NC_000002.11:g.179395026A>C , CM000664.1:g.179395026A>C	GRCh37
NC_000002.10:g.179103272A>C	NCBI36
NG_011618.3:g.305504T>G , LRG_391:g.305504T>G
NG_051363.1:g.12473A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.98612T>G (TTN)	ENSP00000343764.6:p.Phe32871Cys
ENST00000342175.11:c.79697T>G (TTN)	ENSP00000340554.6:p.Phe26566Cys
ENST00000359218.10:c.79496T>G (TTN)	ENSP00000352154.5:p.Phe26499Cys
ENST00000342175.10:c.79697T>G (TTN)	ENSP00000340554.6:p.Phe26566Cys
ENST00000342992.10:c.98612T>G (TTN)	ENSP00000343764.6:p.Phe32871Cys
ENST00000359218.9:c.79496T>G (TTN)	ENSP00000352154.5:p.Phe26499Cys
ENST00000460472.6:c.79121T>G (TTN)	ENSP00000434586.1:p.Phe26374Cys
ENST00000589042.5:c.106316T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe35439Cys
ENST00000591111.5:c.101393T>G (TTN)	ENSP00000465570.1:p.Phe33798Cys
ENST00000615779.4:c.101393T>G (TTN)	ENSP00000483597.1:p.Phe33798Cys
NM_001256850.1:c.101393T>G (TTN)	NP_001243779.1:p.Phe33798Cys
NM_001267550.2:c.106316T>G (TTN) MANE Select	NP_001254479.2:p.Phe35439Cys
NM_003319.4:c.79121T>G (TTN)	NP_003310.4:p.Phe26374Cys
NM_133378.4:c.98612T>G (TTN)	NP_596869.4:p.Phe32871Cys
NM_133432.3:c.79496T>G (TTN)	NP_597676.3:p.Phe26499Cys
NM_133437.4:c.79697T>G (TTN)	NP_597681.4:p.Phe26566Cys
NR_038271.1:n.446+6663A>C (TTN-AS1)
NR_038272.1:n.220-5433A>C (TTN-AS1)
XM_011511729.1:c.105413T>G (TTN)	XP_011510031.1:p.Phe35138Cys
XM_011511730.1:c.79307T>G (TTN)	XP_011510032.1:p.Phe26436Cys
XM_011511731.1:c.79166T>G (TTN)	XP_011510033.1:p.Phe26389Cys
XM_017004819.1:c.105209T>G (TTN)	XP_016860308.1:p.Phe35070Cys
XM_017004820.1:c.100607T>G (TTN)	XP_016860309.1:p.Phe33536Cys
XM_017004821.1:c.100604T>G (TTN)	XP_016860310.1:p.Phe33535Cys
XM_017004822.1:c.97646T>G (TTN)	XP_016860311.1:p.Phe32549Cys
XM_017004823.1:c.79262T>G (TTN)	XP_016860312.1:p.Phe26421Cys
XM_024453094.1:c.100757T>G (TTN)	XP_024308862.1:p.Phe33586Cys
XM_024453095.1:c.100754T>G (TTN)	XP_024308863.1:p.Phe33585Cys
XM_024453096.1:c.100187T>G (TTN)	XP_024308864.1:p.Phe33396Cys
XM_024453097.1:c.97529T>G (TTN)	XP_024308865.1:p.Phe32510Cys
XM_024453098.1:c.97448T>G (TTN)	XP_024308866.1:p.Phe32483Cys
XM_024453099.1:c.79211T>G (TTN)	XP_024308867.1:p.Phe26404Cys
XM_024453100.1:c.69065T>G (TTN)	XP_024308868.1:p.Phe23022Cys