Canonical Allele Identifier: CA349601339

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432120A>C (hg19) ; chr2:g.178567393A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567393A>C , CM000664.2:g.178567393A>C	GRCh38
NC_000002.11:g.179432120A>C , CM000664.1:g.179432120A>C	GRCh37
NC_000002.10:g.179140366A>C	NCBI36
NG_011618.3:g.268410T>G , LRG_391:g.268410T>G
NG_051363.1:g.49567A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71035T>G (TTN)	ENSP00000343764.6:p.Phe23679Val
ENST00000342175.11:c.52120T>G (TTN)	ENSP00000340554.6:p.Phe17374Val
ENST00000359218.10:c.51919T>G (TTN)	ENSP00000352154.5:p.Phe17307Val
ENST00000342175.10:c.52120T>G (TTN)	ENSP00000340554.6:p.Phe17374Val
ENST00000342992.10:c.71035T>G (TTN)	ENSP00000343764.6:p.Phe23679Val
ENST00000359218.9:c.51919T>G (TTN)	ENSP00000352154.5:p.Phe17307Val
ENST00000460472.6:c.51544T>G (TTN)	ENSP00000434586.1:p.Phe17182Val
ENST00000589042.5:c.78739T>G (TTN) MANE Select	ENSP00000467141.1:p.Phe26247Val
ENST00000591111.5:c.73816T>G (TTN)	ENSP00000465570.1:p.Phe24606Val
ENST00000615779.4:c.73816T>G (TTN)	ENSP00000483597.1:p.Phe24606Val
NM_001256850.1:c.73816T>G (TTN)	NP_001243779.1:p.Phe24606Val
NM_001267550.2:c.78739T>G (TTN) MANE Select	NP_001254479.2:p.Phe26247Val
NM_003319.4:c.51544T>G (TTN)	NP_003310.4:p.Phe17182Val
NM_133378.4:c.71035T>G (TTN)	NP_596869.4:p.Phe23679Val
NM_133432.3:c.51919T>G (TTN)	NP_597676.3:p.Phe17307Val
NM_133437.4:c.52120T>G (TTN)	NP_597681.4:p.Phe17374Val
NR_038271.1:n.447-3907A>C (TTN-AS1)
NR_038272.1:n.2044-15179A>C (TTN-AS1)
XM_011511729.1:c.77836T>G (TTN)	XP_011510031.1:p.Phe25946Val
XM_011511730.1:c.51730T>G (TTN)	XP_011510032.1:p.Phe17244Val
XM_011511731.1:c.51589T>G (TTN)	XP_011510033.1:p.Phe17197Val
XM_017004819.1:c.77632T>G (TTN)	XP_016860308.1:p.Phe25878Val
XM_017004820.1:c.73030T>G (TTN)	XP_016860309.1:p.Phe24344Val
XM_017004821.1:c.73027T>G (TTN)	XP_016860310.1:p.Phe24343Val
XM_017004822.1:c.70069T>G (TTN)	XP_016860311.1:p.Phe23357Val
XM_017004823.1:c.51685T>G (TTN)	XP_016860312.1:p.Phe17229Val
XM_024453094.1:c.73180T>G (TTN)	XP_024308862.1:p.Phe24394Val
XM_024453095.1:c.73177T>G (TTN)	XP_024308863.1:p.Phe24393Val
XM_024453096.1:c.72610T>G (TTN)	XP_024308864.1:p.Phe24204Val
XM_024453097.1:c.69952T>G (TTN)	XP_024308865.1:p.Phe23318Val
XM_024453098.1:c.69871T>G (TTN)	XP_024308866.1:p.Phe23291Val
XM_024453099.1:c.51634T>G (TTN)	XP_024308867.1:p.Phe17212Val
XM_024453100.1:c.41488T>G (TTN)	XP_024308868.1:p.Phe13830Val