Canonical Allele Identifier: CA284227

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 47629
• ClinVar RCV Id: RCV001795032
• dbSNP Id: rs2278196
• ExAC: 2:179400895 C / T
• gnomAD v2: 2-179400895-C-T
• gnomAD v3: 2-178536168-C-T
• gnomAD v4: 2-178536168-C-T
• MyVariant Identifiers: chr2:g.179400895C>T (hg19) ; chr2:g.178536168C>T (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536168C>T , CM000664.2:g.178536168C>T	GRCh38
NC_000002.11:g.179400895C>T , CM000664.1:g.179400895C>T	GRCh37
NC_000002.10:g.179109141C>T	NCBI36
NG_011618.3:g.299635G>A , LRG_391:g.299635G>A
NG_051363.1:g.18342C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92875G>A (TTN)	ENSP00000343764.6:p.Val30959Ile
ENST00000342175.11:c.73960G>A (TTN)	ENSP00000340554.6:p.Val24654Ile
ENST00000359218.10:c.73759G>A (TTN)	ENSP00000352154.5:p.Val24587Ile
ENST00000342175.10:c.73960G>A (TTN)	ENSP00000340554.6:p.Val24654Ile
ENST00000342992.10:c.92875G>A (TTN)	ENSP00000343764.6:p.Val30959Ile
ENST00000359218.9:c.73759G>A (TTN)	ENSP00000352154.5:p.Val24587Ile
ENST00000460472.6:c.73384G>A (TTN)	ENSP00000434586.1:p.Val24462Ile
ENST00000589042.5:c.100579G>A (TTN) MANE Select	ENSP00000467141.1:p.Val33527Ile
ENST00000591111.5:c.95656G>A (TTN)	ENSP00000465570.1:p.Val31886Ile
ENST00000615779.4:c.95656G>A (TTN)	ENSP00000483597.1:p.Val31886Ile
NM_001256850.1:c.95656G>A (TTN)	NP_001243779.1:p.Val31886Ile
NM_001267550.2:c.100579G>A (TTN) MANE Select	NP_001254479.2:p.Val33527Ile
NM_003319.4:c.73384G>A (TTN)	NP_003310.4:p.Val24462Ile
NM_133378.4:c.92875G>A (TTN)	NP_596869.4:p.Val30959Ile
NM_133432.3:c.73759G>A (TTN)	NP_597676.3:p.Val24587Ile
NM_133437.4:c.73960G>A (TTN)	NP_597681.4:p.Val24654Ile
NR_038271.1:n.446+12532C>T (TTN-AS1)
NR_038272.1:n.316+340C>T (TTN-AS1)
XM_011511729.1:c.99676G>A (TTN)	XP_011510031.1:p.Val33226Ile
XM_011511730.1:c.73570G>A (TTN)	XP_011510032.1:p.Val24524Ile
XM_011511731.1:c.73429G>A (TTN)	XP_011510033.1:p.Val24477Ile
XM_017004819.1:c.99472G>A (TTN)	XP_016860308.1:p.Val33158Ile
XM_017004820.1:c.94870G>A (TTN)	XP_016860309.1:p.Val31624Ile
XM_017004821.1:c.94867G>A (TTN)	XP_016860310.1:p.Val31623Ile
XM_017004822.1:c.91909G>A (TTN)	XP_016860311.1:p.Val30637Ile
XM_017004823.1:c.73525G>A (TTN)	XP_016860312.1:p.Val24509Ile
XM_024453094.1:c.95020G>A (TTN)	XP_024308862.1:p.Val31674Ile
XM_024453095.1:c.95017G>A (TTN)	XP_024308863.1:p.Val31673Ile
XM_024453096.1:c.94450G>A (TTN)	XP_024308864.1:p.Val31484Ile
XM_024453097.1:c.91792G>A (TTN)	XP_024308865.1:p.Val30598Ile
XM_024453098.1:c.91711G>A (TTN)	XP_024308866.1:p.Val30571Ile
XM_024453099.1:c.73474G>A (TTN)	XP_024308867.1:p.Val24492Ile
XM_024453100.1:c.63328G>A (TTN)	XP_024308868.1:p.Val21110Ile