Canonical Allele Identifier: CA1989198

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 332761
• ClinVar RCV Id: RCV000261667 ; RCV000315436 ; RCV000319078 ; RCV000354170 ; RCV000368850
• dbSNP Id: rs749305586
• ExAC: 2:179429336 C / T
• gnomAD v2: 2-179429336-C-T
• gnomAD v3: 2-178564609-C-T
• gnomAD v4: 2-178564609-C-T
• MyVariant Identifiers: chr2:g.179429336C>T (hg19) ; chr2:g.178564609C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564609C>T , CM000664.2:g.178564609C>T	GRCh38
NC_000002.11:g.179429336C>T , CM000664.1:g.179429336C>T	GRCh37
NC_000002.10:g.179137582C>T	NCBI36
NG_011618.3:g.271194G>A , LRG_391:g.271194G>A
NG_051363.1:g.46783C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73819G>A (TTN)	ENSP00000343764.6:p.Gly24607Ser
ENST00000342175.11:c.54904G>A (TTN)	ENSP00000340554.6:p.Gly18302Ser
ENST00000359218.10:c.54703G>A (TTN)	ENSP00000352154.5:p.Gly18235Ser
ENST00000342175.10:c.54904G>A (TTN)	ENSP00000340554.6:p.Gly18302Ser
ENST00000342992.10:c.73819G>A (TTN)	ENSP00000343764.6:p.Gly24607Ser
ENST00000359218.9:c.54703G>A (TTN)	ENSP00000352154.5:p.Gly18235Ser
ENST00000460472.6:c.54328G>A (TTN)	ENSP00000434586.1:p.Gly18110Ser
ENST00000589042.5:c.81523G>A (TTN) MANE Select	ENSP00000467141.1:p.Gly27175Ser
ENST00000591111.5:c.76600G>A (TTN)	ENSP00000465570.1:p.Gly25534Ser
ENST00000615779.4:c.76600G>A (TTN)	ENSP00000483597.1:p.Gly25534Ser
NM_001256850.1:c.76600G>A (TTN)	NP_001243779.1:p.Gly25534Ser
NM_001267550.2:c.81523G>A (TTN) MANE Select	NP_001254479.2:p.Gly27175Ser
NM_003319.4:c.54328G>A (TTN)	NP_003310.4:p.Gly18110Ser
NM_133378.4:c.73819G>A (TTN)	NP_596869.4:p.Gly24607Ser
NM_133432.3:c.54703G>A (TTN)	NP_597676.3:p.Gly18235Ser
NM_133437.4:c.54904G>A (TTN)	NP_597681.4:p.Gly18302Ser
NR_038271.1:n.447-6691C>T (TTN-AS1)
NR_038272.1:n.2044-17963C>T (TTN-AS1)
XM_011511729.1:c.80620G>A (TTN)	XP_011510031.1:p.Gly26874Ser
XM_011511730.1:c.54514G>A (TTN)	XP_011510032.1:p.Gly18172Ser
XM_011511731.1:c.54373G>A (TTN)	XP_011510033.1:p.Gly18125Ser
XM_017004819.1:c.80416G>A (TTN)	XP_016860308.1:p.Gly26806Ser
XM_017004820.1:c.75814G>A (TTN)	XP_016860309.1:p.Gly25272Ser
XM_017004821.1:c.75811G>A (TTN)	XP_016860310.1:p.Gly25271Ser
XM_017004822.1:c.72853G>A (TTN)	XP_016860311.1:p.Gly24285Ser
XM_017004823.1:c.54469G>A (TTN)	XP_016860312.1:p.Gly18157Ser
XM_024453094.1:c.75964G>A (TTN)	XP_024308862.1:p.Gly25322Ser
XM_024453095.1:c.75961G>A (TTN)	XP_024308863.1:p.Gly25321Ser
XM_024453096.1:c.75394G>A (TTN)	XP_024308864.1:p.Gly25132Ser
XM_024453097.1:c.72736G>A (TTN)	XP_024308865.1:p.Gly24246Ser
XM_024453098.1:c.72655G>A (TTN)	XP_024308866.1:p.Gly24219Ser
XM_024453099.1:c.54418G>A (TTN)	XP_024308867.1:p.Gly18140Ser
XM_024453100.1:c.44272G>A (TTN)	XP_024308868.1:p.Gly14758Ser