Canonical Allele Identifier: CA349515637

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2051373274
• MyVariant Identifiers: chr2:g.179460405A>G (hg19) ; chr2:g.178595678A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178595678A>G , CM000664.2:g.178595678A>G	GRCh38
NC_000002.11:g.179460405A>G , CM000664.1:g.179460405A>G	GRCh37
NC_000002.10:g.179168651A>G	NCBI36
NG_011618.3:g.240125T>C , LRG_391:g.240125T>C
NG_051363.1:g.77852A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49972T>C (TTN)	ENSP00000343764.6:p.Ser16658Pro
ENST00000342175.11:c.31057T>C (TTN)	ENSP00000340554.6:p.Ser10353Pro
ENST00000359218.10:c.30856T>C (TTN)	ENSP00000352154.5:p.Ser10286Pro
ENST00000342175.10:c.31057T>C (TTN)	ENSP00000340554.6:p.Ser10353Pro
ENST00000342992.10:c.49972T>C (TTN)	ENSP00000343764.6:p.Ser16658Pro
ENST00000359218.9:c.30856T>C (TTN)	ENSP00000352154.5:p.Ser10286Pro
ENST00000460472.6:c.30481T>C (TTN)	ENSP00000434586.1:p.Ser10161Pro
ENST00000589042.5:c.57676T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser19226Pro
ENST00000591111.5:c.52753T>C (TTN)	ENSP00000465570.1:p.Ser17585Pro
ENST00000615779.4:c.52753T>C (TTN)	ENSP00000483597.1:p.Ser17585Pro
NM_001256850.1:c.52753T>C (TTN)	NP_001243779.1:p.Ser17585Pro
NM_001267550.2:c.57676T>C (TTN) MANE Select	NP_001254479.2:p.Ser19226Pro
NM_003319.4:c.30481T>C (TTN)	NP_003310.4:p.Ser10161Pro
NM_133378.4:c.49972T>C (TTN)	NP_596869.4:p.Ser16658Pro
NM_133432.3:c.30856T>C (TTN)	NP_597676.3:p.Ser10286Pro
NM_133437.4:c.31057T>C (TTN)	NP_597681.4:p.Ser10353Pro
NR_038271.1:n.597-1918A>G (TTN-AS1)
NR_038272.1:n.3365-1918A>G (TTN-AS1)
XM_011511729.1:c.56773T>C (TTN)	XP_011510031.1:p.Ser18925Pro
XM_011511730.1:c.30667T>C (TTN)	XP_011510032.1:p.Ser10223Pro
XM_011511731.1:c.30526T>C (TTN)	XP_011510033.1:p.Ser10176Pro
XM_017004819.1:c.56569T>C (TTN)	XP_016860308.1:p.Ser18857Pro
XM_017004820.1:c.51967T>C (TTN)	XP_016860309.1:p.Ser17323Pro
XM_017004821.1:c.51964T>C (TTN)	XP_016860310.1:p.Ser17322Pro
XM_017004822.1:c.49006T>C (TTN)	XP_016860311.1:p.Ser16336Pro
XM_017004823.1:c.30622T>C (TTN)	XP_016860312.1:p.Ser10208Pro
XM_024453094.1:c.52117T>C (TTN)	XP_024308862.1:p.Ser17373Pro
XM_024453095.1:c.52114T>C (TTN)	XP_024308863.1:p.Ser17372Pro
XM_024453096.1:c.51547T>C (TTN)	XP_024308864.1:p.Ser17183Pro
XM_024453097.1:c.48889T>C (TTN)	XP_024308865.1:p.Ser16297Pro
XM_024453098.1:c.48808T>C (TTN)	XP_024308866.1:p.Ser16270Pro
XM_024453099.1:c.30571T>C (TTN)	XP_024308867.1:p.Ser10191Pro
XM_024453100.1:c.20425T>C (TTN)	XP_024308868.1:p.Ser6809Pro