Canonical Allele Identifier: CA349417070

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2437511
• ClinVar RCV Id: RCV003143014
• gnomAD v4: 2-178533968-C-T
• MyVariant Identifiers: chr2:g.179398695C>T (hg19) ; chr2:g.178533968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178533968C>T , CM000664.2:g.178533968C>T	GRCh38
NC_000002.11:g.179398695C>T , CM000664.1:g.179398695C>T	GRCh37
NC_000002.10:g.179106941C>T	NCBI36
NG_011618.3:g.301835G>A , LRG_391:g.301835G>A
NG_051363.1:g.16142C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94943G>A (TTN)	ENSP00000343764.6:p.Gly31648Asp
ENST00000342175.11:c.76028G>A (TTN)	ENSP00000340554.6:p.Gly25343Asp
ENST00000359218.10:c.75827G>A (TTN)	ENSP00000352154.5:p.Gly25276Asp
ENST00000342175.10:c.76028G>A (TTN)	ENSP00000340554.6:p.Gly25343Asp
ENST00000342992.10:c.94943G>A (TTN)	ENSP00000343764.6:p.Gly31648Asp
ENST00000359218.9:c.75827G>A (TTN)	ENSP00000352154.5:p.Gly25276Asp
ENST00000460472.6:c.75452G>A (TTN)	ENSP00000434586.1:p.Gly25151Asp
ENST00000589042.5:c.102647G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly34216Asp
ENST00000591111.5:c.97724G>A (TTN)	ENSP00000465570.1:p.Gly32575Asp
ENST00000615779.4:c.97724G>A (TTN)	ENSP00000483597.1:p.Gly32575Asp
NM_001256850.1:c.97724G>A (TTN)	NP_001243779.1:p.Gly32575Asp
NM_001267550.2:c.102647G>A (TTN) MANE Select	NP_001254479.2:p.Gly34216Asp
NM_003319.4:c.75452G>A (TTN)	NP_003310.4:p.Gly25151Asp
NM_133378.4:c.94943G>A (TTN)	NP_596869.4:p.Gly31648Asp
NM_133432.3:c.75827G>A (TTN)	NP_597676.3:p.Gly25276Asp
NM_133437.4:c.76028G>A (TTN)	NP_597681.4:p.Gly25343Asp
NR_038271.1:n.446+10332C>T (TTN-AS1)
NR_038272.1:n.220-1764C>T (TTN-AS1)
XM_011511729.1:c.101744G>A (TTN)	XP_011510031.1:p.Gly33915Asp
XM_011511730.1:c.75638G>A (TTN)	XP_011510032.1:p.Gly25213Asp
XM_011511731.1:c.75497G>A (TTN)	XP_011510033.1:p.Gly25166Asp
XM_017004819.1:c.101540G>A (TTN)	XP_016860308.1:p.Gly33847Asp
XM_017004820.1:c.96938G>A (TTN)	XP_016860309.1:p.Gly32313Asp
XM_017004821.1:c.96935G>A (TTN)	XP_016860310.1:p.Gly32312Asp
XM_017004822.1:c.93977G>A (TTN)	XP_016860311.1:p.Gly31326Asp
XM_017004823.1:c.75593G>A (TTN)	XP_016860312.1:p.Gly25198Asp
XM_024453094.1:c.97088G>A (TTN)	XP_024308862.1:p.Gly32363Asp
XM_024453095.1:c.97085G>A (TTN)	XP_024308863.1:p.Gly32362Asp
XM_024453096.1:c.96518G>A (TTN)	XP_024308864.1:p.Gly32173Asp
XM_024453097.1:c.93860G>A (TTN)	XP_024308865.1:p.Gly31287Asp
XM_024453098.1:c.93779G>A (TTN)	XP_024308866.1:p.Gly31260Asp
XM_024453099.1:c.75542G>A (TTN)	XP_024308867.1:p.Gly25181Asp
XM_024453100.1:c.65396G>A (TTN)	XP_024308868.1:p.Gly21799Asp