Canonical Allele Identifier: CA1985738

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466702
• ClinVar RCV Id: RCV001683570 ; RCV002395398
• dbSNP Id: rs761394437
• ExAC: 2:179398793 G / A
• gnomAD v2: 2-179398793-G-A
• gnomAD v3: 2-178534066-G-A
• gnomAD v4: 2-178534066-G-A
• COSMIC: COSM2895962 ; COSM2895963 ; COSM2895964 ; COSM2895965
• MyVariant Identifiers: chr2:g.179398793G>A (hg19) ; chr2:g.178534066G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178534066G>A , CM000664.2:g.178534066G>A	GRCh38
NC_000002.11:g.179398793G>A , CM000664.1:g.179398793G>A	GRCh37
NC_000002.10:g.179107039G>A	NCBI36
NG_011618.3:g.301737C>T , LRG_391:g.301737C>T
NG_051363.1:g.16240G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.94845C>T (TTN)	ENSP00000343764.6:p.Tyr31615=
ENST00000342175.11:c.75930C>T (TTN)	ENSP00000340554.6:p.Tyr25310=
ENST00000359218.10:c.75729C>T (TTN)	ENSP00000352154.5:p.Tyr25243=
ENST00000342175.10:c.75930C>T (TTN)	ENSP00000340554.6:p.Tyr25310=
ENST00000342992.10:c.94845C>T (TTN)	ENSP00000343764.6:p.Tyr31615=
ENST00000359218.9:c.75729C>T (TTN)	ENSP00000352154.5:p.Tyr25243=
ENST00000460472.6:c.75354C>T (TTN)	ENSP00000434586.1:p.Tyr25118=
ENST00000589042.5:c.102549C>T (TTN) MANE Select	ENSP00000467141.1:p.Tyr34183=
ENST00000591111.5:c.97626C>T (TTN)	ENSP00000465570.1:p.Tyr32542=
ENST00000615779.4:c.97626C>T (TTN)	ENSP00000483597.1:p.Tyr32542=
NM_001256850.1:c.97626C>T (TTN)	NP_001243779.1:p.Tyr32542=
NM_001267550.2:c.102549C>T (TTN) MANE Select	NP_001254479.2:p.Tyr34183=
NM_003319.4:c.75354C>T (TTN)	NP_003310.4:p.Tyr25118=
NM_133378.4:c.94845C>T (TTN)	NP_596869.4:p.Tyr31615=
NM_133432.3:c.75729C>T (TTN)	NP_597676.3:p.Tyr25243=
NM_133437.4:c.75930C>T (TTN)	NP_597681.4:p.Tyr25310=
NR_038271.1:n.446+10430G>A (TTN-AS1)
NR_038272.1:n.220-1666G>A (TTN-AS1)
XM_011511729.1:c.101646C>T (TTN)	XP_011510031.1:p.Tyr33882=
XM_011511730.1:c.75540C>T (TTN)	XP_011510032.1:p.Tyr25180=
XM_011511731.1:c.75399C>T (TTN)	XP_011510033.1:p.Tyr25133=
XM_017004819.1:c.101442C>T (TTN)	XP_016860308.1:p.Tyr33814=
XM_017004820.1:c.96840C>T (TTN)	XP_016860309.1:p.Tyr32280=
XM_017004821.1:c.96837C>T (TTN)	XP_016860310.1:p.Tyr32279=
XM_017004822.1:c.93879C>T (TTN)	XP_016860311.1:p.Tyr31293=
XM_017004823.1:c.75495C>T (TTN)	XP_016860312.1:p.Tyr25165=
XM_024453094.1:c.96990C>T (TTN)	XP_024308862.1:p.Tyr32330=
XM_024453095.1:c.96987C>T (TTN)	XP_024308863.1:p.Tyr32329=
XM_024453096.1:c.96420C>T (TTN)	XP_024308864.1:p.Tyr32140=
XM_024453097.1:c.93762C>T (TTN)	XP_024308865.1:p.Tyr31254=
XM_024453098.1:c.93681C>T (TTN)	XP_024308866.1:p.Tyr31227=
XM_024453099.1:c.75444C>T (TTN)	XP_024308867.1:p.Tyr25148=
XM_024453100.1:c.65298C>T (TTN)	XP_024308868.1:p.Tyr21766=