Canonical Allele Identifier: CA349593276

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430994G>C (hg19) ; chr2:g.178566267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566267G>C , CM000664.2:g.178566267G>C	GRCh38
NC_000002.11:g.179430994G>C , CM000664.1:g.179430994G>C	GRCh37
NC_000002.10:g.179139240G>C	NCBI36
NG_011618.3:g.269536C>G , LRG_391:g.269536C>G
NG_051363.1:g.48441G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.72161C>G (TTN)	ENSP00000343764.6:p.Pro24054Arg
ENST00000342175.11:c.53246C>G (TTN)	ENSP00000340554.6:p.Pro17749Arg
ENST00000359218.10:c.53045C>G (TTN)	ENSP00000352154.5:p.Pro17682Arg
ENST00000342175.10:c.53246C>G (TTN)	ENSP00000340554.6:p.Pro17749Arg
ENST00000342992.10:c.72161C>G (TTN)	ENSP00000343764.6:p.Pro24054Arg
ENST00000359218.9:c.53045C>G (TTN)	ENSP00000352154.5:p.Pro17682Arg
ENST00000460472.6:c.52670C>G (TTN)	ENSP00000434586.1:p.Pro17557Arg
ENST00000589042.5:c.79865C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro26622Arg
ENST00000591111.5:c.74942C>G (TTN)	ENSP00000465570.1:p.Pro24981Arg
ENST00000615779.4:c.74942C>G (TTN)	ENSP00000483597.1:p.Pro24981Arg
NM_001256850.1:c.74942C>G (TTN)	NP_001243779.1:p.Pro24981Arg
NM_001267550.2:c.79865C>G (TTN) MANE Select	NP_001254479.2:p.Pro26622Arg
NM_003319.4:c.52670C>G (TTN)	NP_003310.4:p.Pro17557Arg
NM_133378.4:c.72161C>G (TTN)	NP_596869.4:p.Pro24054Arg
NM_133432.3:c.53045C>G (TTN)	NP_597676.3:p.Pro17682Arg
NM_133437.4:c.53246C>G (TTN)	NP_597681.4:p.Pro17749Arg
NR_038271.1:n.447-5033G>C (TTN-AS1)
NR_038272.1:n.2044-16305G>C (TTN-AS1)
XM_011511729.1:c.78962C>G (TTN)	XP_011510031.1:p.Pro26321Arg
XM_011511730.1:c.52856C>G (TTN)	XP_011510032.1:p.Pro17619Arg
XM_011511731.1:c.52715C>G (TTN)	XP_011510033.1:p.Pro17572Arg
XM_017004819.1:c.78758C>G (TTN)	XP_016860308.1:p.Pro26253Arg
XM_017004820.1:c.74156C>G (TTN)	XP_016860309.1:p.Pro24719Arg
XM_017004821.1:c.74153C>G (TTN)	XP_016860310.1:p.Pro24718Arg
XM_017004822.1:c.71195C>G (TTN)	XP_016860311.1:p.Pro23732Arg
XM_017004823.1:c.52811C>G (TTN)	XP_016860312.1:p.Pro17604Arg
XM_024453094.1:c.74306C>G (TTN)	XP_024308862.1:p.Pro24769Arg
XM_024453095.1:c.74303C>G (TTN)	XP_024308863.1:p.Pro24768Arg
XM_024453096.1:c.73736C>G (TTN)	XP_024308864.1:p.Pro24579Arg
XM_024453097.1:c.71078C>G (TTN)	XP_024308865.1:p.Pro23693Arg
XM_024453098.1:c.70997C>G (TTN)	XP_024308866.1:p.Pro23666Arg
XM_024453099.1:c.52760C>G (TTN)	XP_024308867.1:p.Pro17587Arg
XM_024453100.1:c.42614C>G (TTN)	XP_024308868.1:p.Pro14205Arg