Canonical Allele Identifier: CA349446151

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1695511296
• gnomAD v4: 2-178543312-G-C
• MyVariant Identifiers: chr2:g.179408039G>C (hg19) ; chr2:g.178543312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543312G>C , CM000664.2:g.178543312G>C	GRCh38
NC_000002.11:g.179408039G>C , CM000664.1:g.179408039G>C	GRCh37
NC_000002.10:g.179116285G>C	NCBI36
NG_011618.3:g.292491C>G , LRG_391:g.292491C>G
NG_051363.1:g.25486G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88957C>G (TTN)	ENSP00000343764.6:p.Leu29653Val
ENST00000342175.11:c.70042C>G (TTN)	ENSP00000340554.6:p.Leu23348Val
ENST00000359218.10:c.69841C>G (TTN)	ENSP00000352154.5:p.Leu23281Val
ENST00000342175.10:c.70042C>G (TTN)	ENSP00000340554.6:p.Leu23348Val
ENST00000342992.10:c.88957C>G (TTN)	ENSP00000343764.6:p.Leu29653Val
ENST00000359218.9:c.69841C>G (TTN)	ENSP00000352154.5:p.Leu23281Val
ENST00000460472.6:c.69466C>G (TTN)	ENSP00000434586.1:p.Leu23156Val
ENST00000589042.5:c.96661C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32221Val
ENST00000591111.5:c.91738C>G (TTN)	ENSP00000465570.1:p.Leu30580Val
ENST00000615779.4:c.91738C>G (TTN)	ENSP00000483597.1:p.Leu30580Val
NM_001256850.1:c.91738C>G (TTN)	NP_001243779.1:p.Leu30580Val
NM_001267550.2:c.96661C>G (TTN) MANE Select	NP_001254479.2:p.Leu32221Val
NM_003319.4:c.69466C>G (TTN)	NP_003310.4:p.Leu23156Val
NM_133378.4:c.88957C>G (TTN)	NP_596869.4:p.Leu29653Val
NM_133432.3:c.69841C>G (TTN)	NP_597676.3:p.Leu23281Val
NM_133437.4:c.70042C>G (TTN)	NP_597681.4:p.Leu23348Val
NR_038271.1:n.446+19676G>C (TTN-AS1)
NR_038272.1:n.2043+951G>C (TTN-AS1)
XM_011511729.1:c.95758C>G (TTN)	XP_011510031.1:p.Leu31920Val
XM_011511730.1:c.69652C>G (TTN)	XP_011510032.1:p.Leu23218Val
XM_011511731.1:c.69511C>G (TTN)	XP_011510033.1:p.Leu23171Val
XM_017004819.1:c.95554C>G (TTN)	XP_016860308.1:p.Leu31852Val
XM_017004820.1:c.90952C>G (TTN)	XP_016860309.1:p.Leu30318Val
XM_017004821.1:c.90949C>G (TTN)	XP_016860310.1:p.Leu30317Val
XM_017004822.1:c.87991C>G (TTN)	XP_016860311.1:p.Leu29331Val
XM_017004823.1:c.69607C>G (TTN)	XP_016860312.1:p.Leu23203Val
XM_024453094.1:c.91102C>G (TTN)	XP_024308862.1:p.Leu30368Val
XM_024453095.1:c.91099C>G (TTN)	XP_024308863.1:p.Leu30367Val
XM_024453096.1:c.90532C>G (TTN)	XP_024308864.1:p.Leu30178Val
XM_024453097.1:c.87874C>G (TTN)	XP_024308865.1:p.Leu29292Val
XM_024453098.1:c.87793C>G (TTN)	XP_024308866.1:p.Leu29265Val
XM_024453099.1:c.69556C>G (TTN)	XP_024308867.1:p.Leu23186Val
XM_024453100.1:c.59410C>G (TTN)	XP_024308868.1:p.Leu19804Val