Canonical Allele Identifier: CA349427124

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1515541
• ClinVar RCV Id: RCV002048540
• dbSNP Id: rs2154138051
• MyVariant Identifiers: chr2:g.179401901C>T (hg19) ; chr2:g.178537174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537174C>T , CM000664.2:g.178537174C>T	GRCh38
NC_000002.11:g.179401901C>T , CM000664.1:g.179401901C>T	GRCh37
NC_000002.10:g.179110147C>T	NCBI36
NG_011618.3:g.298629G>A , LRG_391:g.298629G>A
NG_051363.1:g.19348C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92231G>A (TTN)	ENSP00000343764.6:p.Trp30744Ter
ENST00000342175.11:c.73316G>A (TTN)	ENSP00000340554.6:p.Trp24439Ter
ENST00000359218.10:c.73115G>A (TTN)	ENSP00000352154.5:p.Trp24372Ter
ENST00000342175.10:c.73316G>A (TTN)	ENSP00000340554.6:p.Trp24439Ter
ENST00000342992.10:c.92231G>A (TTN)	ENSP00000343764.6:p.Trp30744Ter
ENST00000359218.9:c.73115G>A (TTN)	ENSP00000352154.5:p.Trp24372Ter
ENST00000460472.6:c.72740G>A (TTN)	ENSP00000434586.1:p.Trp24247Ter
ENST00000589042.5:c.99935G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp33312Ter
ENST00000591111.5:c.95012G>A (TTN)	ENSP00000465570.1:p.Trp31671Ter
ENST00000615779.4:c.95012G>A (TTN)	ENSP00000483597.1:p.Trp31671Ter
NM_001256850.1:c.95012G>A (TTN)	NP_001243779.1:p.Trp31671Ter
NM_001267550.2:c.99935G>A (TTN) MANE Select	NP_001254479.2:p.Trp33312Ter
NM_003319.4:c.72740G>A (TTN)	NP_003310.4:p.Trp24247Ter
NM_133378.4:c.92231G>A (TTN)	NP_596869.4:p.Trp30744Ter
NM_133432.3:c.73115G>A (TTN)	NP_597676.3:p.Trp24372Ter
NM_133437.4:c.73316G>A (TTN)	NP_597681.4:p.Trp24439Ter
NR_038271.1:n.446+13538C>T (TTN-AS1)
NR_038272.1:n.317-187C>T (TTN-AS1)
XM_011511729.1:c.99032G>A (TTN)	XP_011510031.1:p.Trp33011Ter
XM_011511730.1:c.72926G>A (TTN)	XP_011510032.1:p.Trp24309Ter
XM_011511731.1:c.72785G>A (TTN)	XP_011510033.1:p.Trp24262Ter
XM_017004819.1:c.98828G>A (TTN)	XP_016860308.1:p.Trp32943Ter
XM_017004820.1:c.94226G>A (TTN)	XP_016860309.1:p.Trp31409Ter
XM_017004821.1:c.94223G>A (TTN)	XP_016860310.1:p.Trp31408Ter
XM_017004822.1:c.91265G>A (TTN)	XP_016860311.1:p.Trp30422Ter
XM_017004823.1:c.72881G>A (TTN)	XP_016860312.1:p.Trp24294Ter
XM_024453094.1:c.94376G>A (TTN)	XP_024308862.1:p.Trp31459Ter
XM_024453095.1:c.94373G>A (TTN)	XP_024308863.1:p.Trp31458Ter
XM_024453096.1:c.93806G>A (TTN)	XP_024308864.1:p.Trp31269Ter
XM_024453097.1:c.91148G>A (TTN)	XP_024308865.1:p.Trp30383Ter
XM_024453098.1:c.91067G>A (TTN)	XP_024308866.1:p.Trp30356Ter
XM_024453099.1:c.72830G>A (TTN)	XP_024308867.1:p.Trp24277Ter
XM_024453100.1:c.62684G>A (TTN)	XP_024308868.1:p.Trp20895Ter