Canonical Allele Identifier: CA349612347

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433727G>C (hg19) ; chr2:g.178569000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569000G>C , CM000664.2:g.178569000G>C	GRCh38
NC_000002.11:g.179433727G>C , CM000664.1:g.179433727G>C	GRCh37
NC_000002.10:g.179141973G>C	NCBI36
NG_011618.3:g.266803C>G , LRG_391:g.266803C>G
NG_051363.1:g.51174G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.69428C>G (TTN)	ENSP00000343764.6:p.Thr23143Ser
ENST00000342175.11:c.50513C>G (TTN)	ENSP00000340554.6:p.Thr16838Ser
ENST00000359218.10:c.50312C>G (TTN)	ENSP00000352154.5:p.Thr16771Ser
ENST00000342175.10:c.50513C>G (TTN)	ENSP00000340554.6:p.Thr16838Ser
ENST00000342992.10:c.69428C>G (TTN)	ENSP00000343764.6:p.Thr23143Ser
ENST00000359218.9:c.50312C>G (TTN)	ENSP00000352154.5:p.Thr16771Ser
ENST00000460472.6:c.49937C>G (TTN)	ENSP00000434586.1:p.Thr16646Ser
ENST00000589042.5:c.77132C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr25711Ser
ENST00000591111.5:c.72209C>G (TTN)	ENSP00000465570.1:p.Thr24070Ser
ENST00000615779.4:c.72209C>G (TTN)	ENSP00000483597.1:p.Thr24070Ser
NM_001256850.1:c.72209C>G (TTN)	NP_001243779.1:p.Thr24070Ser
NM_001267550.2:c.77132C>G (TTN) MANE Select	NP_001254479.2:p.Thr25711Ser
NM_003319.4:c.49937C>G (TTN)	NP_003310.4:p.Thr16646Ser
NM_133378.4:c.69428C>G (TTN)	NP_596869.4:p.Thr23143Ser
NM_133432.3:c.50312C>G (TTN)	NP_597676.3:p.Thr16771Ser
NM_133437.4:c.50513C>G (TTN)	NP_597681.4:p.Thr16838Ser
NR_038271.1:n.447-2300G>C (TTN-AS1)
NR_038272.1:n.2044-13572G>C (TTN-AS1)
XM_011511729.1:c.76229C>G (TTN)	XP_011510031.1:p.Thr25410Ser
XM_011511730.1:c.50123C>G (TTN)	XP_011510032.1:p.Thr16708Ser
XM_011511731.1:c.49982C>G (TTN)	XP_011510033.1:p.Thr16661Ser
XM_017004819.1:c.76025C>G (TTN)	XP_016860308.1:p.Thr25342Ser
XM_017004820.1:c.71423C>G (TTN)	XP_016860309.1:p.Thr23808Ser
XM_017004821.1:c.71420C>G (TTN)	XP_016860310.1:p.Thr23807Ser
XM_017004822.1:c.68462C>G (TTN)	XP_016860311.1:p.Thr22821Ser
XM_017004823.1:c.50078C>G (TTN)	XP_016860312.1:p.Thr16693Ser
XM_024453094.1:c.71573C>G (TTN)	XP_024308862.1:p.Thr23858Ser
XM_024453095.1:c.71570C>G (TTN)	XP_024308863.1:p.Thr23857Ser
XM_024453096.1:c.71003C>G (TTN)	XP_024308864.1:p.Thr23668Ser
XM_024453097.1:c.68345C>G (TTN)	XP_024308865.1:p.Thr22782Ser
XM_024453098.1:c.68264C>G (TTN)	XP_024308866.1:p.Thr22755Ser
XM_024453099.1:c.50027C>G (TTN)	XP_024308867.1:p.Thr16676Ser
XM_024453100.1:c.39881C>G (TTN)	XP_024308868.1:p.Thr13294Ser