Canonical Allele Identifier: CA351816

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 222859
• ClinVar RCV Id: RCV000208156 ; RCV001046289
• dbSNP Id: rs869025544
• gnomAD v4: 2-178594134-C-T
• MyVariant Identifiers: chr2:g.179458861C>T (hg19) ; chr2:g.178594134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594134C>T , CM000664.2:g.178594134C>T	GRCh38
NC_000002.11:g.179458861C>T , CM000664.1:g.179458861C>T	GRCh37
NC_000002.10:g.179167107C>T	NCBI36
NG_011618.3:g.241669G>A , LRG_391:g.241669G>A
NG_051363.1:g.76308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50555G>A (TTN)	ENSP00000343764.6:p.Trp16852Ter
ENST00000342175.11:c.31640G>A (TTN)	ENSP00000340554.6:p.Trp10547Ter
ENST00000359218.10:c.31439G>A (TTN)	ENSP00000352154.5:p.Trp10480Ter
ENST00000342175.10:c.31640G>A (TTN)	ENSP00000340554.6:p.Trp10547Ter
ENST00000342992.10:c.50555G>A (TTN)	ENSP00000343764.6:p.Trp16852Ter
ENST00000359218.9:c.31439G>A (TTN)	ENSP00000352154.5:p.Trp10480Ter
ENST00000460472.6:c.31064G>A (TTN)	ENSP00000434586.1:p.Trp10355Ter
ENST00000589042.5:c.58259G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp19420Ter
ENST00000591111.5:c.53336G>A (TTN)	ENSP00000465570.1:p.Trp17779Ter
ENST00000615779.4:c.53336G>A (TTN)	ENSP00000483597.1:p.Trp17779Ter
NM_001256850.1:c.53336G>A (TTN)	NP_001243779.1:p.Trp17779Ter
NM_001267550.2:c.58259G>A (TTN) MANE Select	NP_001254479.2:p.Trp19420Ter
NM_003319.4:c.31064G>A (TTN)	NP_003310.4:p.Trp10355Ter
NM_133378.4:c.50555G>A (TTN)	NP_596869.4:p.Trp16852Ter
NM_133432.3:c.31439G>A (TTN)	NP_597676.3:p.Trp10480Ter
NM_133437.4:c.31640G>A (TTN)	NP_597681.4:p.Trp10547Ter
NR_038271.1:n.597-3462C>T (TTN-AS1)
NR_038272.1:n.3364+2820C>T (TTN-AS1)
XM_011511729.1:c.57356G>A (TTN)	XP_011510031.1:p.Trp19119Ter
XM_011511730.1:c.31250G>A (TTN)	XP_011510032.1:p.Trp10417Ter
XM_011511731.1:c.31109G>A (TTN)	XP_011510033.1:p.Trp10370Ter
XM_017004819.1:c.57152G>A (TTN)	XP_016860308.1:p.Trp19051Ter
XM_017004820.1:c.52550G>A (TTN)	XP_016860309.1:p.Trp17517Ter
XM_017004821.1:c.52547G>A (TTN)	XP_016860310.1:p.Trp17516Ter
XM_017004822.1:c.49589G>A (TTN)	XP_016860311.1:p.Trp16530Ter
XM_017004823.1:c.31205G>A (TTN)	XP_016860312.1:p.Trp10402Ter
XM_024453094.1:c.52700G>A (TTN)	XP_024308862.1:p.Trp17567Ter
XM_024453095.1:c.52697G>A (TTN)	XP_024308863.1:p.Trp17566Ter
XM_024453096.1:c.52130G>A (TTN)	XP_024308864.1:p.Trp17377Ter
XM_024453097.1:c.49472G>A (TTN)	XP_024308865.1:p.Trp16491Ter
XM_024453098.1:c.49391G>A (TTN)	XP_024308866.1:p.Trp16464Ter
XM_024453099.1:c.31154G>A (TTN)	XP_024308867.1:p.Trp10385Ter
XM_024453100.1:c.21008G>A (TTN)	XP_024308868.1:p.Trp7003Ter