Canonical Allele Identifier: CA349645266

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438032G>C (hg19) ; chr2:g.178573305G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573305G>C , CM000664.2:g.178573305G>C	GRCh38
NC_000002.11:g.179438032G>C , CM000664.1:g.179438032G>C	GRCh37
NC_000002.10:g.179146278G>C	NCBI36
NG_011618.3:g.262498C>G , LRG_391:g.262498C>G
NG_051363.1:g.55479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.65123C>G (TTN)	ENSP00000343764.6:p.Thr21708Ser
ENST00000342175.11:c.46208C>G (TTN)	ENSP00000340554.6:p.Thr15403Ser
ENST00000359218.10:c.46007C>G (TTN)	ENSP00000352154.5:p.Thr15336Ser
ENST00000342175.10:c.46208C>G (TTN)	ENSP00000340554.6:p.Thr15403Ser
ENST00000342992.10:c.65123C>G (TTN)	ENSP00000343764.6:p.Thr21708Ser
ENST00000359218.9:c.46007C>G (TTN)	ENSP00000352154.5:p.Thr15336Ser
ENST00000460472.6:c.45632C>G (TTN)	ENSP00000434586.1:p.Thr15211Ser
ENST00000589042.5:c.72827C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr24276Ser
ENST00000591111.5:c.67904C>G (TTN)	ENSP00000465570.1:p.Thr22635Ser
ENST00000615779.4:c.67904C>G (TTN)	ENSP00000483597.1:p.Thr22635Ser
NM_001256850.1:c.67904C>G (TTN)	NP_001243779.1:p.Thr22635Ser
NM_001267550.2:c.72827C>G (TTN) MANE Select	NP_001254479.2:p.Thr24276Ser
NM_003319.4:c.45632C>G (TTN)	NP_003310.4:p.Thr15211Ser
NM_133378.4:c.65123C>G (TTN)	NP_596869.4:p.Thr21708Ser
NM_133432.3:c.46007C>G (TTN)	NP_597676.3:p.Thr15336Ser
NM_133437.4:c.46208C>G (TTN)	NP_597681.4:p.Thr15403Ser
NR_038271.1:n.596+1856G>C (TTN-AS1)
NR_038272.1:n.2044-9267G>C (TTN-AS1)
XM_011511729.1:c.71924C>G (TTN)	XP_011510031.1:p.Thr23975Ser
XM_011511730.1:c.45818C>G (TTN)	XP_011510032.1:p.Thr15273Ser
XM_011511731.1:c.45677C>G (TTN)	XP_011510033.1:p.Thr15226Ser
XM_017004819.1:c.71720C>G (TTN)	XP_016860308.1:p.Thr23907Ser
XM_017004820.1:c.67118C>G (TTN)	XP_016860309.1:p.Thr22373Ser
XM_017004821.1:c.67115C>G (TTN)	XP_016860310.1:p.Thr22372Ser
XM_017004822.1:c.64157C>G (TTN)	XP_016860311.1:p.Thr21386Ser
XM_017004823.1:c.45773C>G (TTN)	XP_016860312.1:p.Thr15258Ser
XM_024453094.1:c.67268C>G (TTN)	XP_024308862.1:p.Thr22423Ser
XM_024453095.1:c.67265C>G (TTN)	XP_024308863.1:p.Thr22422Ser
XM_024453096.1:c.66698C>G (TTN)	XP_024308864.1:p.Thr22233Ser
XM_024453097.1:c.64040C>G (TTN)	XP_024308865.1:p.Thr21347Ser
XM_024453098.1:c.63959C>G (TTN)	XP_024308866.1:p.Thr21320Ser
XM_024453099.1:c.45722C>G (TTN)	XP_024308867.1:p.Thr15241Ser
XM_024453100.1:c.35576C>G (TTN)	XP_024308868.1:p.Thr11859Ser