Canonical Allele Identifier: CA1996324

Gene: TTN

Linked Data

• ClinVar Variation Id: 1104675
• ClinVar RCV Id: RCV001428814 ; RCV002384639
• dbSNP Id: rs762979127
• ExAC: 2:179501447 A / G
• gnomAD v2: 2-179501447-A-G
• gnomAD v3: 2-178636720-A-G
• gnomAD v4: 2-178636720-A-G
• MyVariant Identifiers: chr2:g.179501447A>G (hg19) ; chr2:g.178636720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636720A>G , CM000664.2:g.178636720A>G	GRCh38
NC_000002.11:g.179501447A>G , CM000664.1:g.179501447A>G	GRCh37
NC_000002.10:g.179209692A>G	NCBI36
NG_011618.3:g.199083T>C , LRG_391:g.199083T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.33303T>C	ENSP00000343764.6:p.Pro11101=
ENST00000342175.11:c.14388T>C	ENSP00000340554.6:p.Pro4796=
ENST00000359218.10:c.14187T>C	ENSP00000352154.5:p.Pro4729=
ENST00000342175.10:c.14388T>C	ENSP00000340554.6:p.Pro4796=
ENST00000342992.10:c.33303T>C	ENSP00000343764.6:p.Pro11101=
ENST00000359218.9:c.14187T>C	ENSP00000352154.5:p.Pro4729=
ENST00000460472.6:c.13812T>C	ENSP00000434586.1:p.Pro4604=
ENST00000589042.5:c.41007T>C MANE Select	ENSP00000467141.1:p.Pro13669=
ENST00000591111.5:c.36084T>C	ENSP00000465570.1:p.Pro12028=
ENST00000615779.4:c.36084T>C	ENSP00000483597.1:p.Pro12028=
NM_001256850.1:c.36084T>C	NP_001243779.1:p.Pro12028=
NM_001267550.2:c.41007T>C MANE Select	NP_001254479.2:p.Pro13669=
NM_003319.4:c.13812T>C	NP_003310.4:p.Pro4604=
NM_133378.4:c.33303T>C	NP_596869.4:p.Pro11101=
NM_133432.3:c.14187T>C	NP_597676.3:p.Pro4729=
NM_133437.4:c.14388T>C	NP_597681.4:p.Pro4796=
XM_011511729.1:c.40104T>C	XP_011510031.1:p.Pro13368=
XM_011511730.1:c.13998T>C	XP_011510032.1:p.Pro4666=
XM_011511731.1:c.13857T>C	XP_011510033.1:p.Pro4619=
XM_017004819.1:c.39900T>C	XP_016860308.1:p.Pro13300=
XM_017004820.1:c.35298T>C	XP_016860309.1:p.Pro11766=
XM_017004821.1:c.35295T>C	XP_016860310.1:p.Pro11765=
XM_017004822.1:c.32337T>C	XP_016860311.1:p.Pro10779=
XM_017004823.1:c.13953T>C	XP_016860312.1:p.Pro4651=
XM_024453094.1:c.35448T>C	XP_024308862.1:p.Pro11816=
XM_024453095.1:c.35445T>C	XP_024308863.1:p.Pro11815=
XM_024453096.1:c.34878T>C	XP_024308864.1:p.Pro11626=
XM_024453097.1:c.32220T>C	XP_024308865.1:p.Pro10740=
XM_024453098.1:c.32139T>C	XP_024308866.1:p.Pro10713=
XM_024453099.1:c.13902T>C	XP_024308867.1:p.Pro4634=
XM_024453100.1:c.3756T>C	XP_024308868.1:p.Pro1252=