Canonical Allele Identifier: CA349436078

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449405A>C (hg19) ; chr2:g.178584678A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584678A>C , CM000664.2:g.178584678A>C	GRCh38
NC_000002.11:g.179449405A>C , CM000664.1:g.179449405A>C	GRCh37
NC_000002.10:g.179157651A>C	NCBI36
NG_011618.3:g.251125T>G , LRG_391:g.251125T>G
NG_051363.1:g.66852A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57259T>G (TTN)	ENSP00000343764.6:p.Phe19087Val
ENST00000342175.11:c.38344T>G (TTN)	ENSP00000340554.6:p.Phe12782Val
ENST00000359218.10:c.38143T>G (TTN)	ENSP00000352154.5:p.Phe12715Val
ENST00000342175.10:c.38344T>G (TTN)	ENSP00000340554.6:p.Phe12782Val
ENST00000342992.10:c.57259T>G (TTN)	ENSP00000343764.6:p.Phe19087Val
ENST00000359218.9:c.38143T>G (TTN)	ENSP00000352154.5:p.Phe12715Val
ENST00000460472.6:c.37768T>G (TTN)	ENSP00000434586.1:p.Phe12590Val
ENST00000589042.5:c.64963T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe21655Val
ENST00000591111.5:c.60040T>G (TTN)	ENSP00000465570.1:p.Phe20014Val
ENST00000615779.4:c.60040T>G (TTN)	ENSP00000483597.1:p.Phe20014Val
NM_001256850.1:c.60040T>G (TTN)	NP_001243779.1:p.Phe20014Val
NM_001267550.2:c.64963T>G (TTN) MANE Select	NP_001254479.2:p.Phe21655Val
NM_003319.4:c.37768T>G (TTN)	NP_003310.4:p.Phe12590Val
NM_133378.4:c.57259T>G (TTN)	NP_596869.4:p.Phe19087Val
NM_133432.3:c.38143T>G (TTN)	NP_597676.3:p.Phe12715Val
NM_133437.4:c.38344T>G (TTN)	NP_597681.4:p.Phe12782Val
NR_038271.1:n.597-12918A>C (TTN-AS1)
NR_038272.1:n.2873A>C (TTN-AS1)
XM_011511729.1:c.64060T>G (TTN)	XP_011510031.1:p.Phe21354Val
XM_011511730.1:c.37954T>G (TTN)	XP_011510032.1:p.Phe12652Val
XM_011511731.1:c.37813T>G (TTN)	XP_011510033.1:p.Phe12605Val
XM_017004819.1:c.63856T>G (TTN)	XP_016860308.1:p.Phe21286Val
XM_017004820.1:c.59254T>G (TTN)	XP_016860309.1:p.Phe19752Val
XM_017004821.1:c.59251T>G (TTN)	XP_016860310.1:p.Phe19751Val
XM_017004822.1:c.56293T>G (TTN)	XP_016860311.1:p.Phe18765Val
XM_017004823.1:c.37909T>G (TTN)	XP_016860312.1:p.Phe12637Val
XM_024453094.1:c.59404T>G (TTN)	XP_024308862.1:p.Phe19802Val
XM_024453095.1:c.59401T>G (TTN)	XP_024308863.1:p.Phe19801Val
XM_024453096.1:c.58834T>G (TTN)	XP_024308864.1:p.Phe19612Val
XM_024453097.1:c.56176T>G (TTN)	XP_024308865.1:p.Phe18726Val
XM_024453098.1:c.56095T>G (TTN)	XP_024308866.1:p.Phe18699Val
XM_024453099.1:c.37858T>G (TTN)	XP_024308867.1:p.Phe12620Val
XM_024453100.1:c.27712T>G (TTN)	XP_024308868.1:p.Phe9238Val