Canonical Allele Identifier: CA1987538

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs777327992
• ExAC: 2:179414563 A / G
• gnomAD v2: 2-179414563-A-G
• gnomAD v3: 2-178549836-A-G
• gnomAD v4: 2-178549836-A-G
• MyVariant Identifiers: chr2:g.179414563A>G (hg19) ; chr2:g.178549836A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549836A>G , CM000664.2:g.178549836A>G	GRCh38
NC_000002.11:g.179414563A>G , CM000664.1:g.179414563A>G	GRCh37
NC_000002.10:g.179122809A>G	NCBI36
NG_011618.3:g.285967T>C , LRG_391:g.285967T>C
NG_051363.1:g.32010A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84182T>C (TTN)	ENSP00000343764.6:p.Phe28061Ser
ENST00000342175.11:c.65267T>C (TTN)	ENSP00000340554.6:p.Phe21756Ser
ENST00000359218.10:c.65066T>C (TTN)	ENSP00000352154.5:p.Phe21689Ser
ENST00000342175.10:c.65267T>C (TTN)	ENSP00000340554.6:p.Phe21756Ser
ENST00000342992.10:c.84182T>C (TTN)	ENSP00000343764.6:p.Phe28061Ser
ENST00000359218.9:c.65066T>C (TTN)	ENSP00000352154.5:p.Phe21689Ser
ENST00000460472.6:c.64691T>C (TTN)	ENSP00000434586.1:p.Phe21564Ser
ENST00000589042.5:c.91886T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe30629Ser
ENST00000591111.5:c.86963T>C (TTN)	ENSP00000465570.1:p.Phe28988Ser
ENST00000615779.4:c.86963T>C (TTN)	ENSP00000483597.1:p.Phe28988Ser
NM_001256850.1:c.86963T>C (TTN)	NP_001243779.1:p.Phe28988Ser
NM_001267550.2:c.91886T>C (TTN) MANE Select	NP_001254479.2:p.Phe30629Ser
NM_003319.4:c.64691T>C (TTN)	NP_003310.4:p.Phe21564Ser
NM_133378.4:c.84182T>C (TTN)	NP_596869.4:p.Phe28061Ser
NM_133432.3:c.65066T>C (TTN)	NP_597676.3:p.Phe21689Ser
NM_133437.4:c.65267T>C (TTN)	NP_597681.4:p.Phe21756Ser
NR_038271.1:n.447-21464A>G (TTN-AS1)
NR_038272.1:n.2043+7475A>G (TTN-AS1)
XM_011511729.1:c.90983T>C (TTN)	XP_011510031.1:p.Phe30328Ser
XM_011511730.1:c.64877T>C (TTN)	XP_011510032.1:p.Phe21626Ser
XM_011511731.1:c.64736T>C (TTN)	XP_011510033.1:p.Phe21579Ser
XM_017004819.1:c.90779T>C (TTN)	XP_016860308.1:p.Phe30260Ser
XM_017004820.1:c.86177T>C (TTN)	XP_016860309.1:p.Phe28726Ser
XM_017004821.1:c.86174T>C (TTN)	XP_016860310.1:p.Phe28725Ser
XM_017004822.1:c.83216T>C (TTN)	XP_016860311.1:p.Phe27739Ser
XM_017004823.1:c.64832T>C (TTN)	XP_016860312.1:p.Phe21611Ser
XM_024453094.1:c.86327T>C (TTN)	XP_024308862.1:p.Phe28776Ser
XM_024453095.1:c.86324T>C (TTN)	XP_024308863.1:p.Phe28775Ser
XM_024453096.1:c.85757T>C (TTN)	XP_024308864.1:p.Phe28586Ser
XM_024453097.1:c.83099T>C (TTN)	XP_024308865.1:p.Phe27700Ser
XM_024453098.1:c.83018T>C (TTN)	XP_024308866.1:p.Phe27673Ser
XM_024453099.1:c.64781T>C (TTN)	XP_024308867.1:p.Phe21594Ser
XM_024453100.1:c.54635T>C (TTN)	XP_024308868.1:p.Phe18212Ser