Canonical Allele Identifier: CA181920

Gene: TTN

Linked Data

• ClinVar Variation Id: 178252
• ClinVar RCV Id: RCV000154992 ; RCV000247714 ; RCV000228841 ; RCV000713979 ; RCV001353378
• dbSNP Id: rs374882815
• ExAC: 2:179595442 A / G
• gnomAD v2: 2-179595442-A-G
• gnomAD v3: 2-178730715-A-G
• gnomAD v4: 2-178730715-A-G
• MyVariant Identifiers: chr2:g.179595442A>G (hg19) ; chr2:g.178730715A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178730715A>G , CM000664.2:g.178730715A>G	GRCh38
NC_000002.11:g.179595442A>G , CM000664.1:g.179595442A>G	GRCh37
NC_000002.10:g.179303687A>G	NCBI36
NG_011618.3:g.105088T>C , LRG_391:g.105088T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.14086T>C	ENSP00000343764.6:p.Cys4696Arg
ENST00000342175.11:c.13858+7367T>C	ENSP00000340554.6:n.13858+7367T>C
ENST00000359218.10:c.13657+7367T>C	ENSP00000352154.5:n.13657+7367T>C
ENST00000342175.10:c.13858+7367T>C	ENSP00000340554.6:n.13858+7367T>C
ENST00000342992.10:c.14086T>C	ENSP00000343764.6:p.Cys4696Arg
ENST00000359218.9:c.13657+7367T>C	ENSP00000352154.5:n.13657+7367T>C
ENST00000460472.6:c.13282+7367T>C	ENSP00000434586.1:n.13282+7367T>C
ENST00000589042.5:c.17818T>C MANE Select	ENSP00000467141.1:p.Cys5940Arg
ENST00000591111.5:c.16867T>C	ENSP00000465570.1:p.Cys5623Arg
ENST00000615779.4:c.16867T>C	ENSP00000483597.1:p.Cys5623Arg
NM_001256850.1:c.16867T>C	NP_001243779.1:p.Cys5623Arg
NM_001267550.2:c.17818T>C MANE Select	NP_001254479.2:p.Cys5940Arg
NM_003319.4:c.13282+7367T>C	NP_003310.4:n.13282+7367T>C
NM_133378.4:c.14086T>C	NP_596869.4:p.Cys4696Arg
NM_133432.3:c.13657+7367T>C	NP_597676.3:n.13657+7367T>C
NM_133437.4:c.13858+7367T>C	NP_597681.4:n.13858+7367T>C
XM_011511729.1:c.16915T>C	XP_011510031.1:p.Cys5639Arg
XM_011511730.1:c.13468+7367T>C	XP_011510032.1:n.13468+7367T>C
XM_011511731.1:c.13327+7367T>C	XP_011510033.1:n.13327+7367T>C
XM_017004819.1:c.16870T>C	XP_016860308.1:p.Cys5624Arg
XM_017004820.1:c.14089T>C	XP_016860309.1:p.Cys4697Arg
XM_017004821.1:c.14086T>C	XP_016860310.1:p.Cys4696Arg
XM_017004822.1:c.16870T>C	XP_016860311.1:p.Cys5624Arg
XM_017004823.1:c.13423+7367T>C	XP_016860312.1:n.13423+7367T>C
XM_024453094.1:c.16870T>C	XP_024308862.1:p.Cys5624Arg
XM_024453095.1:c.16870T>C	XP_024308863.1:p.Cys5624Arg
XM_024453096.1:c.16870T>C	XP_024308864.1:p.Cys5624Arg
XM_024453097.1:c.16870T>C	XP_024308865.1:p.Cys5624Arg
XM_024453098.1:c.16870T>C	XP_024308866.1:p.Cys5624Arg
XM_024453099.1:c.13423+7367T>C	XP_024308867.1:n.13423+7367T>C