Canonical Allele Identifier: CA60956253

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2038466
• ClinVar RCV Id: RCV002907628
• dbSNP Id: rs879056612
• gnomAD v2: 2-179396952-T-G
• gnomAD v4: 2-178532225-T-G
• COSMIC: COSM4737402 ; COSM4737403 ; COSM4737404 ; COSM4737405
• MyVariant Identifiers: chr2:g.179396952T>G (hg19) ; chr2:g.178532225T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532225T>G , CM000664.2:g.178532225T>G	GRCh38
NC_000002.11:g.179396952T>G , CM000664.1:g.179396952T>G	GRCh37
NC_000002.10:g.179105198T>G	NCBI36
NG_011618.3:g.303578A>C , LRG_391:g.303578A>C
NG_051363.1:g.14399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96686A>C (TTN)	ENSP00000343764.6:p.Glu32229Ala
ENST00000342175.11:c.77771A>C (TTN)	ENSP00000340554.6:p.Glu25924Ala
ENST00000359218.10:c.77570A>C (TTN)	ENSP00000352154.5:p.Glu25857Ala
ENST00000342175.10:c.77771A>C (TTN)	ENSP00000340554.6:p.Glu25924Ala
ENST00000342992.10:c.96686A>C (TTN)	ENSP00000343764.6:p.Glu32229Ala
ENST00000359218.9:c.77570A>C (TTN)	ENSP00000352154.5:p.Glu25857Ala
ENST00000460472.6:c.77195A>C (TTN)	ENSP00000434586.1:p.Glu25732Ala
ENST00000589042.5:c.104390A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu34797Ala
ENST00000591111.5:c.99467A>C (TTN)	ENSP00000465570.1:p.Glu33156Ala
ENST00000615779.4:c.99467A>C (TTN)	ENSP00000483597.1:p.Glu33156Ala
NM_001256850.1:c.99467A>C (TTN)	NP_001243779.1:p.Glu33156Ala
NM_001267550.2:c.104390A>C (TTN) MANE Select	NP_001254479.2:p.Glu34797Ala
NM_003319.4:c.77195A>C (TTN)	NP_003310.4:p.Glu25732Ala
NM_133378.4:c.96686A>C (TTN)	NP_596869.4:p.Glu32229Ala
NM_133432.3:c.77570A>C (TTN)	NP_597676.3:p.Glu25857Ala
NM_133437.4:c.77771A>C (TTN)	NP_597681.4:p.Glu25924Ala
NR_038271.1:n.446+8589T>G (TTN-AS1)
NR_038272.1:n.220-3507T>G (TTN-AS1)
XM_011511729.1:c.103487A>C (TTN)	XP_011510031.1:p.Glu34496Ala
XM_011511730.1:c.77381A>C (TTN)	XP_011510032.1:p.Glu25794Ala
XM_011511731.1:c.77240A>C (TTN)	XP_011510033.1:p.Glu25747Ala
XM_017004819.1:c.103283A>C (TTN)	XP_016860308.1:p.Glu34428Ala
XM_017004820.1:c.98681A>C (TTN)	XP_016860309.1:p.Glu32894Ala
XM_017004821.1:c.98678A>C (TTN)	XP_016860310.1:p.Glu32893Ala
XM_017004822.1:c.95720A>C (TTN)	XP_016860311.1:p.Glu31907Ala
XM_017004823.1:c.77336A>C (TTN)	XP_016860312.1:p.Glu25779Ala
XM_024453094.1:c.98831A>C (TTN)	XP_024308862.1:p.Glu32944Ala
XM_024453095.1:c.98828A>C (TTN)	XP_024308863.1:p.Glu32943Ala
XM_024453096.1:c.98261A>C (TTN)	XP_024308864.1:p.Glu32754Ala
XM_024453097.1:c.95603A>C (TTN)	XP_024308865.1:p.Glu31868Ala
XM_024453098.1:c.95522A>C (TTN)	XP_024308866.1:p.Glu31841Ala
XM_024453099.1:c.77285A>C (TTN)	XP_024308867.1:p.Glu25762Ala
XM_024453100.1:c.67139A>C (TTN)	XP_024308868.1:p.Glu22380Ala