Canonical Allele Identifier: CA430245170

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1088025
• ClinVar RCV Id: RCV001406317
• dbSNP Id: rs2154150752
• MyVariant Identifiers: chr2:g.179416484T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551757T>C , CM000664.2:g.178551757T>C	GRCh38
NC_000002.11:g.179416484T>C , CM000664.1:g.179416484T>C	GRCh37
NC_000002.10:g.179124730T>C	NCBI36
NG_011618.3:g.284046A>G , LRG_391:g.284046A>G
NG_051363.1:g.33931T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83439A>G (TTN)	ENSP00000343764.6:p.Gly27813=
ENST00000342175.11:c.64524A>G (TTN)	ENSP00000340554.6:p.Gly21508=
ENST00000359218.10:c.64323A>G (TTN)	ENSP00000352154.5:p.Gly21441=
ENST00000342175.10:c.64524A>G (TTN)	ENSP00000340554.6:p.Gly21508=
ENST00000342992.10:c.83439A>G (TTN)	ENSP00000343764.6:p.Gly27813=
ENST00000359218.9:c.64323A>G (TTN)	ENSP00000352154.5:p.Gly21441=
ENST00000460472.6:c.63948A>G (TTN)	ENSP00000434586.1:p.Gly21316=
ENST00000589042.5:c.91143A>G (TTN) MANE Select	ENSP00000467141.1:p.Gly30381=
ENST00000591111.5:c.86220A>G (TTN)	ENSP00000465570.1:p.Gly28740=
ENST00000615779.4:c.86220A>G (TTN)	ENSP00000483597.1:p.Gly28740=
NM_001256850.1:c.86220A>G (TTN)	NP_001243779.1:p.Gly28740=
NM_001267550.2:c.91143A>G (TTN) MANE Select	NP_001254479.2:p.Gly30381=
NM_003319.4:c.63948A>G (TTN)	NP_003310.4:p.Gly21316=
NM_133378.4:c.83439A>G (TTN)	NP_596869.4:p.Gly27813=
NM_133432.3:c.64323A>G (TTN)	NP_597676.3:p.Gly21441=
NM_133437.4:c.64524A>G (TTN)	NP_597681.4:p.Gly21508=
NR_038271.1:n.447-19543T>C (TTN-AS1)
NR_038272.1:n.2043+9396T>C (TTN-AS1)
XM_011511729.1:c.90240A>G (TTN)	XP_011510031.1:p.Gly30080=
XM_011511730.1:c.64134A>G (TTN)	XP_011510032.1:p.Gly21378=
XM_011511731.1:c.63993A>G (TTN)	XP_011510033.1:p.Gly21331=
XM_017004819.1:c.90036A>G (TTN)	XP_016860308.1:p.Gly30012=
XM_017004820.1:c.85434A>G (TTN)	XP_016860309.1:p.Gly28478=
XM_017004821.1:c.85431A>G (TTN)	XP_016860310.1:p.Gly28477=
XM_017004822.1:c.82473A>G (TTN)	XP_016860311.1:p.Gly27491=
XM_017004823.1:c.64089A>G (TTN)	XP_016860312.1:p.Gly21363=
XM_024453094.1:c.85584A>G (TTN)	XP_024308862.1:p.Gly28528=
XM_024453095.1:c.85581A>G (TTN)	XP_024308863.1:p.Gly28527=
XM_024453096.1:c.85014A>G (TTN)	XP_024308864.1:p.Gly28338=
XM_024453097.1:c.82356A>G (TTN)	XP_024308865.1:p.Gly27452=
XM_024453098.1:c.82275A>G (TTN)	XP_024308866.1:p.Gly27425=
XM_024453099.1:c.64038A>G (TTN)	XP_024308867.1:p.Gly21346=
XM_024453100.1:c.53892A>G (TTN)	XP_024308868.1:p.Gly17964=