Canonical Allele Identifier: CA236095

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 191138
• ClinVar RCV Id: RCV000171319 ; RCV002492709
• dbSNP Id: rs559590585
• ExAC: 2:179473057 C / T
• gnomAD v2: 2-179473057-C-T
• gnomAD v3: 2-178608330-C-T
• gnomAD v4: 2-178608330-C-T
• MyVariant Identifiers: chr2:g.179473057C>T (hg19) ; chr2:g.178608330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608330C>T , CM000664.2:g.178608330C>T	GRCh38
NC_000002.11:g.179473057C>T , CM000664.1:g.179473057C>T	GRCh37
NC_000002.10:g.179181302C>T	NCBI36
NG_011618.3:g.227473G>A , LRG_391:g.227473G>A
NG_051363.1:g.90504C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.44849G>A (TTN)	ENSP00000343764.6:p.Arg14950His
ENST00000342175.11:c.25934G>A (TTN)	ENSP00000340554.6:p.Arg8645His
ENST00000359218.10:c.25733G>A (TTN)	ENSP00000352154.5:p.Arg8578His
ENST00000342175.10:c.25934G>A (TTN)	ENSP00000340554.6:p.Arg8645His
ENST00000342992.10:c.44849G>A (TTN)	ENSP00000343764.6:p.Arg14950His
ENST00000359218.9:c.25733G>A (TTN)	ENSP00000352154.5:p.Arg8578His
ENST00000460472.6:c.25358G>A (TTN)	ENSP00000434586.1:p.Arg8453His
ENST00000589042.5:c.52553G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg17518His
ENST00000591111.5:c.47630G>A (TTN)	ENSP00000465570.1:p.Arg15877His
ENST00000615779.4:c.47630G>A (TTN)	ENSP00000483597.1:p.Arg15877His
NM_001256850.1:c.47630G>A (TTN)	NP_001243779.1:p.Arg15877His
NM_001267550.2:c.52553G>A (TTN) MANE Select	NP_001254479.2:p.Arg17518His
NM_003319.4:c.25358G>A (TTN)	NP_003310.4:p.Arg8453His
NM_133378.4:c.44849G>A (TTN)	NP_596869.4:p.Arg14950His
NM_133432.3:c.25733G>A (TTN)	NP_597676.3:p.Arg8578His
NM_133437.4:c.25934G>A (TTN)	NP_597681.4:p.Arg8645His
NR_038271.1:n.782+64C>T (TTN-AS1)
XM_011511729.1:c.51650G>A (TTN)	XP_011510031.1:p.Arg17217His
XM_011511730.1:c.25544G>A (TTN)	XP_011510032.1:p.Arg8515His
XM_011511731.1:c.25403G>A (TTN)	XP_011510033.1:p.Arg8468His
XM_017004819.1:c.51446G>A (TTN)	XP_016860308.1:p.Arg17149His
XM_017004820.1:c.46844G>A (TTN)	XP_016860309.1:p.Arg15615His
XM_017004821.1:c.46841G>A (TTN)	XP_016860310.1:p.Arg15614His
XM_017004822.1:c.43883G>A (TTN)	XP_016860311.1:p.Arg14628His
XM_017004823.1:c.25499G>A (TTN)	XP_016860312.1:p.Arg8500His
XM_024453094.1:c.46994G>A (TTN)	XP_024308862.1:p.Arg15665His
XM_024453095.1:c.46991G>A (TTN)	XP_024308863.1:p.Arg15664His
XM_024453096.1:c.46424G>A (TTN)	XP_024308864.1:p.Arg15475His
XM_024453097.1:c.43766G>A (TTN)	XP_024308865.1:p.Arg14589His
XM_024453098.1:c.43685G>A (TTN)	XP_024308866.1:p.Arg14562His
XM_024453099.1:c.25448G>A (TTN)	XP_024308867.1:p.Arg8483His
XM_024453100.1:c.15302G>A (TTN)	XP_024308868.1:p.Arg5101His