Canonical Allele Identifier: CA349407030

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395240A>C (hg19) ; chr2:g.178530513A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530513A>C , CM000664.2:g.178530513A>C	GRCh38
NC_000002.11:g.179395240A>C , CM000664.1:g.179395240A>C	GRCh37
NC_000002.10:g.179103486A>C	NCBI36
NG_011618.3:g.305290T>G , LRG_391:g.305290T>G
NG_051363.1:g.12687A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98398T>G (TTN)	ENSP00000343764.6:p.Ser32800Ala
ENST00000342175.11:c.79483T>G (TTN)	ENSP00000340554.6:p.Ser26495Ala
ENST00000359218.10:c.79282T>G (TTN)	ENSP00000352154.5:p.Ser26428Ala
ENST00000342175.10:c.79483T>G (TTN)	ENSP00000340554.6:p.Ser26495Ala
ENST00000342992.10:c.98398T>G (TTN)	ENSP00000343764.6:p.Ser32800Ala
ENST00000359218.9:c.79282T>G (TTN)	ENSP00000352154.5:p.Ser26428Ala
ENST00000460472.6:c.78907T>G (TTN)	ENSP00000434586.1:p.Ser26303Ala
ENST00000589042.5:c.106102T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser35368Ala
ENST00000591111.5:c.101179T>G (TTN)	ENSP00000465570.1:p.Ser33727Ala
ENST00000615779.4:c.101179T>G (TTN)	ENSP00000483597.1:p.Ser33727Ala
NM_001256850.1:c.101179T>G (TTN)	NP_001243779.1:p.Ser33727Ala
NM_001267550.2:c.106102T>G (TTN) MANE Select	NP_001254479.2:p.Ser35368Ala
NM_003319.4:c.78907T>G (TTN)	NP_003310.4:p.Ser26303Ala
NM_133378.4:c.98398T>G (TTN)	NP_596869.4:p.Ser32800Ala
NM_133432.3:c.79282T>G (TTN)	NP_597676.3:p.Ser26428Ala
NM_133437.4:c.79483T>G (TTN)	NP_597681.4:p.Ser26495Ala
NR_038271.1:n.446+6877A>C (TTN-AS1)
NR_038272.1:n.220-5219A>C (TTN-AS1)
XM_011511729.1:c.105199T>G (TTN)	XP_011510031.1:p.Ser35067Ala
XM_011511730.1:c.79093T>G (TTN)	XP_011510032.1:p.Ser26365Ala
XM_011511731.1:c.78952T>G (TTN)	XP_011510033.1:p.Ser26318Ala
XM_017004819.1:c.104995T>G (TTN)	XP_016860308.1:p.Ser34999Ala
XM_017004820.1:c.100393T>G (TTN)	XP_016860309.1:p.Ser33465Ala
XM_017004821.1:c.100390T>G (TTN)	XP_016860310.1:p.Ser33464Ala
XM_017004822.1:c.97432T>G (TTN)	XP_016860311.1:p.Ser32478Ala
XM_017004823.1:c.79048T>G (TTN)	XP_016860312.1:p.Ser26350Ala
XM_024453094.1:c.100543T>G (TTN)	XP_024308862.1:p.Ser33515Ala
XM_024453095.1:c.100540T>G (TTN)	XP_024308863.1:p.Ser33514Ala
XM_024453096.1:c.99973T>G (TTN)	XP_024308864.1:p.Ser33325Ala
XM_024453097.1:c.97315T>G (TTN)	XP_024308865.1:p.Ser32439Ala
XM_024453098.1:c.97234T>G (TTN)	XP_024308866.1:p.Ser32412Ala
XM_024453099.1:c.78997T>G (TTN)	XP_024308867.1:p.Ser26333Ala
XM_024453100.1:c.68851T>G (TTN)	XP_024308868.1:p.Ser22951Ala