Canonical Allele Identifier: CA349570886

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535015
• ClinVar RCV Id: RCV000642770
• dbSNP Id: rs747365357
• MyVariant Identifiers: chr2:g.179427980G>A (hg19) ; chr2:g.178563253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178563253G>A , CM000664.2:g.178563253G>A	GRCh38
NC_000002.11:g.179427980G>A , CM000664.1:g.179427980G>A	GRCh37
NC_000002.10:g.179136226G>A	NCBI36
NG_011618.3:g.272550C>T , LRG_391:g.272550C>T
NG_051363.1:g.45427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.75175C>T (TTN)	ENSP00000343764.6:p.Gln25059Ter
ENST00000342175.11:c.56260C>T (TTN)	ENSP00000340554.6:p.Gln18754Ter
ENST00000359218.10:c.56059C>T (TTN)	ENSP00000352154.5:p.Gln18687Ter
ENST00000342175.10:c.56260C>T (TTN)	ENSP00000340554.6:p.Gln18754Ter
ENST00000342992.10:c.75175C>T (TTN)	ENSP00000343764.6:p.Gln25059Ter
ENST00000359218.9:c.56059C>T (TTN)	ENSP00000352154.5:p.Gln18687Ter
ENST00000460472.6:c.55684C>T (TTN)	ENSP00000434586.1:p.Gln18562Ter
ENST00000589042.5:c.82879C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln27627Ter
ENST00000591111.5:c.77956C>T (TTN)	ENSP00000465570.1:p.Gln25986Ter
ENST00000615779.4:c.77956C>T (TTN)	ENSP00000483597.1:p.Gln25986Ter
NM_001256850.1:c.77956C>T (TTN)	NP_001243779.1:p.Gln25986Ter
NM_001267550.2:c.82879C>T (TTN) MANE Select	NP_001254479.2:p.Gln27627Ter
NM_003319.4:c.55684C>T (TTN)	NP_003310.4:p.Gln18562Ter
NM_133378.4:c.75175C>T (TTN)	NP_596869.4:p.Gln25059Ter
NM_133432.3:c.56059C>T (TTN)	NP_597676.3:p.Gln18687Ter
NM_133437.4:c.56260C>T (TTN)	NP_597681.4:p.Gln18754Ter
NR_038271.1:n.447-8047G>A (TTN-AS1)
NR_038272.1:n.2044-19319G>A (TTN-AS1)
XM_011511729.1:c.81976C>T (TTN)	XP_011510031.1:p.Gln27326Ter
XM_011511730.1:c.55870C>T (TTN)	XP_011510032.1:p.Gln18624Ter
XM_011511731.1:c.55729C>T (TTN)	XP_011510033.1:p.Gln18577Ter
XM_017004819.1:c.81772C>T (TTN)	XP_016860308.1:p.Gln27258Ter
XM_017004820.1:c.77170C>T (TTN)	XP_016860309.1:p.Gln25724Ter
XM_017004821.1:c.77167C>T (TTN)	XP_016860310.1:p.Gln25723Ter
XM_017004822.1:c.74209C>T (TTN)	XP_016860311.1:p.Gln24737Ter
XM_017004823.1:c.55825C>T (TTN)	XP_016860312.1:p.Gln18609Ter
XM_024453094.1:c.77320C>T (TTN)	XP_024308862.1:p.Gln25774Ter
XM_024453095.1:c.77317C>T (TTN)	XP_024308863.1:p.Gln25773Ter
XM_024453096.1:c.76750C>T (TTN)	XP_024308864.1:p.Gln25584Ter
XM_024453097.1:c.74092C>T (TTN)	XP_024308865.1:p.Gln24698Ter
XM_024453098.1:c.74011C>T (TTN)	XP_024308866.1:p.Gln24671Ter
XM_024453099.1:c.55774C>T (TTN)	XP_024308867.1:p.Gln18592Ter
XM_024453100.1:c.45628C>T (TTN)	XP_024308868.1:p.Gln15210Ter