Canonical Allele Identifier: CA349658732

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1280984914
• gnomAD v2: 2-179439626-T-C
• MyVariant Identifiers: chr2:g.179439626T>C (hg19) ; chr2:g.178574899T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574899T>C , CM000664.2:g.178574899T>C	GRCh38
NC_000002.11:g.179439626T>C , CM000664.1:g.179439626T>C	GRCh37
NC_000002.10:g.179147872T>C	NCBI36
NG_011618.3:g.260904A>G , LRG_391:g.260904A>G
NG_051363.1:g.57073T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63529A>G (TTN)	ENSP00000343764.6:p.Thr21177Ala
ENST00000342175.11:c.44614A>G (TTN)	ENSP00000340554.6:p.Thr14872Ala
ENST00000359218.10:c.44413A>G (TTN)	ENSP00000352154.5:p.Thr14805Ala
ENST00000342175.10:c.44614A>G (TTN)	ENSP00000340554.6:p.Thr14872Ala
ENST00000342992.10:c.63529A>G (TTN)	ENSP00000343764.6:p.Thr21177Ala
ENST00000359218.9:c.44413A>G (TTN)	ENSP00000352154.5:p.Thr14805Ala
ENST00000460472.6:c.44038A>G (TTN)	ENSP00000434586.1:p.Thr14680Ala
ENST00000589042.5:c.71233A>G (TTN) MANE Select	ENSP00000467141.1:p.Thr23745Ala
ENST00000591111.5:c.66310A>G (TTN)	ENSP00000465570.1:p.Thr22104Ala
ENST00000615779.4:c.66310A>G (TTN)	ENSP00000483597.1:p.Thr22104Ala
NM_001256850.1:c.66310A>G (TTN)	NP_001243779.1:p.Thr22104Ala
NM_001267550.2:c.71233A>G (TTN) MANE Select	NP_001254479.2:p.Thr23745Ala
NM_003319.4:c.44038A>G (TTN)	NP_003310.4:p.Thr14680Ala
NM_133378.4:c.63529A>G (TTN)	NP_596869.4:p.Thr21177Ala
NM_133432.3:c.44413A>G (TTN)	NP_597676.3:p.Thr14805Ala
NM_133437.4:c.44614A>G (TTN)	NP_597681.4:p.Thr14872Ala
NR_038271.1:n.596+3450T>C (TTN-AS1)
NR_038272.1:n.2044-7673T>C (TTN-AS1)
XM_011511729.1:c.70330A>G (TTN)	XP_011510031.1:p.Thr23444Ala
XM_011511730.1:c.44224A>G (TTN)	XP_011510032.1:p.Thr14742Ala
XM_011511731.1:c.44083A>G (TTN)	XP_011510033.1:p.Thr14695Ala
XM_017004819.1:c.70126A>G (TTN)	XP_016860308.1:p.Thr23376Ala
XM_017004820.1:c.65524A>G (TTN)	XP_016860309.1:p.Thr21842Ala
XM_017004821.1:c.65521A>G (TTN)	XP_016860310.1:p.Thr21841Ala
XM_017004822.1:c.62563A>G (TTN)	XP_016860311.1:p.Thr20855Ala
XM_017004823.1:c.44179A>G (TTN)	XP_016860312.1:p.Thr14727Ala
XM_024453094.1:c.65674A>G (TTN)	XP_024308862.1:p.Thr21892Ala
XM_024453095.1:c.65671A>G (TTN)	XP_024308863.1:p.Thr21891Ala
XM_024453096.1:c.65104A>G (TTN)	XP_024308864.1:p.Thr21702Ala
XM_024453097.1:c.62446A>G (TTN)	XP_024308865.1:p.Thr20816Ala
XM_024453098.1:c.62365A>G (TTN)	XP_024308866.1:p.Thr20789Ala
XM_024453099.1:c.44128A>G (TTN)	XP_024308867.1:p.Thr14710Ala
XM_024453100.1:c.33982A>G (TTN)	XP_024308868.1:p.Thr11328Ala