Canonical Allele Identifier: CA430241640

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408941G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544214G>C , CM000664.2:g.178544214G>C	GRCh38
NC_000002.11:g.179408941G>C , CM000664.1:g.179408941G>C	GRCh37
NC_000002.10:g.179117187G>C	NCBI36
NG_011618.3:g.291589C>G , LRG_391:g.291589C>G
NG_051363.1:g.26388G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88311C>G (TTN)	ENSP00000343764.6:p.Pro29437=
ENST00000342175.11:c.69396C>G (TTN)	ENSP00000340554.6:p.Pro23132=
ENST00000359218.10:c.69195C>G (TTN)	ENSP00000352154.5:p.Pro23065=
ENST00000342175.10:c.69396C>G (TTN)	ENSP00000340554.6:p.Pro23132=
ENST00000342992.10:c.88311C>G (TTN)	ENSP00000343764.6:p.Pro29437=
ENST00000359218.9:c.69195C>G (TTN)	ENSP00000352154.5:p.Pro23065=
ENST00000460472.6:c.68820C>G (TTN)	ENSP00000434586.1:p.Pro22940=
ENST00000589042.5:c.96015C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro32005=
ENST00000591111.5:c.91092C>G (TTN)	ENSP00000465570.1:p.Pro30364=
ENST00000615779.4:c.91092C>G (TTN)	ENSP00000483597.1:p.Pro30364=
NM_001256850.1:c.91092C>G (TTN)	NP_001243779.1:p.Pro30364=
NM_001267550.2:c.96015C>G (TTN) MANE Select	NP_001254479.2:p.Pro32005=
NM_003319.4:c.68820C>G (TTN)	NP_003310.4:p.Pro22940=
NM_133378.4:c.88311C>G (TTN)	NP_596869.4:p.Pro29437=
NM_133432.3:c.69195C>G (TTN)	NP_597676.3:p.Pro23065=
NM_133437.4:c.69396C>G (TTN)	NP_597681.4:p.Pro23132=
NR_038271.1:n.446+20578G>C (TTN-AS1)
NR_038272.1:n.2043+1853G>C (TTN-AS1)
XM_011511729.1:c.95112C>G (TTN)	XP_011510031.1:p.Pro31704=
XM_011511730.1:c.69006C>G (TTN)	XP_011510032.1:p.Pro23002=
XM_011511731.1:c.68865C>G (TTN)	XP_011510033.1:p.Pro22955=
XM_017004819.1:c.94908C>G (TTN)	XP_016860308.1:p.Pro31636=
XM_017004820.1:c.90306C>G (TTN)	XP_016860309.1:p.Pro30102=
XM_017004821.1:c.90303C>G (TTN)	XP_016860310.1:p.Pro30101=
XM_017004822.1:c.87345C>G (TTN)	XP_016860311.1:p.Pro29115=
XM_017004823.1:c.68961C>G (TTN)	XP_016860312.1:p.Pro22987=
XM_024453094.1:c.90456C>G (TTN)	XP_024308862.1:p.Pro30152=
XM_024453095.1:c.90453C>G (TTN)	XP_024308863.1:p.Pro30151=
XM_024453096.1:c.89886C>G (TTN)	XP_024308864.1:p.Pro29962=
XM_024453097.1:c.87228C>G (TTN)	XP_024308865.1:p.Pro29076=
XM_024453098.1:c.87147C>G (TTN)	XP_024308866.1:p.Pro29049=
XM_024453099.1:c.68910C>G (TTN)	XP_024308867.1:p.Pro22970=
XM_024453100.1:c.58764C>G (TTN)	XP_024308868.1:p.Pro19588=