Canonical Allele Identifier: CA430235944

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2100833
• ClinVar RCV Id: RCV003025981
• dbSNP Id: rs1689446940
• MyVariant Identifiers: chr2:g.179396960T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532233T>C , CM000664.2:g.178532233T>C	GRCh38
NC_000002.11:g.179396960T>C , CM000664.1:g.179396960T>C	GRCh37
NC_000002.10:g.179105206T>C	NCBI36
NG_011618.3:g.303570A>G , LRG_391:g.303570A>G
NG_051363.1:g.14407T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96678A>G (TTN)	ENSP00000343764.6:p.Ser32226=
ENST00000342175.11:c.77763A>G (TTN)	ENSP00000340554.6:p.Ser25921=
ENST00000359218.10:c.77562A>G (TTN)	ENSP00000352154.5:p.Ser25854=
ENST00000342175.10:c.77763A>G (TTN)	ENSP00000340554.6:p.Ser25921=
ENST00000342992.10:c.96678A>G (TTN)	ENSP00000343764.6:p.Ser32226=
ENST00000359218.9:c.77562A>G (TTN)	ENSP00000352154.5:p.Ser25854=
ENST00000460472.6:c.77187A>G (TTN)	ENSP00000434586.1:p.Ser25729=
ENST00000589042.5:c.104382A>G (TTN) MANE Select	ENSP00000467141.1:p.Ser34794=
ENST00000591111.5:c.99459A>G (TTN)	ENSP00000465570.1:p.Ser33153=
ENST00000615779.4:c.99459A>G (TTN)	ENSP00000483597.1:p.Ser33153=
NM_001256850.1:c.99459A>G (TTN)	NP_001243779.1:p.Ser33153=
NM_001267550.2:c.104382A>G (TTN) MANE Select	NP_001254479.2:p.Ser34794=
NM_003319.4:c.77187A>G (TTN)	NP_003310.4:p.Ser25729=
NM_133378.4:c.96678A>G (TTN)	NP_596869.4:p.Ser32226=
NM_133432.3:c.77562A>G (TTN)	NP_597676.3:p.Ser25854=
NM_133437.4:c.77763A>G (TTN)	NP_597681.4:p.Ser25921=
NR_038271.1:n.446+8597T>C (TTN-AS1)
NR_038272.1:n.220-3499T>C (TTN-AS1)
XM_011511729.1:c.103479A>G (TTN)	XP_011510031.1:p.Ser34493=
XM_011511730.1:c.77373A>G (TTN)	XP_011510032.1:p.Ser25791=
XM_011511731.1:c.77232A>G (TTN)	XP_011510033.1:p.Ser25744=
XM_017004819.1:c.103275A>G (TTN)	XP_016860308.1:p.Ser34425=
XM_017004820.1:c.98673A>G (TTN)	XP_016860309.1:p.Ser32891=
XM_017004821.1:c.98670A>G (TTN)	XP_016860310.1:p.Ser32890=
XM_017004822.1:c.95712A>G (TTN)	XP_016860311.1:p.Ser31904=
XM_017004823.1:c.77328A>G (TTN)	XP_016860312.1:p.Ser25776=
XM_024453094.1:c.98823A>G (TTN)	XP_024308862.1:p.Ser32941=
XM_024453095.1:c.98820A>G (TTN)	XP_024308863.1:p.Ser32940=
XM_024453096.1:c.98253A>G (TTN)	XP_024308864.1:p.Ser32751=
XM_024453097.1:c.95595A>G (TTN)	XP_024308865.1:p.Ser31865=
XM_024453098.1:c.95514A>G (TTN)	XP_024308866.1:p.Ser31838=
XM_024453099.1:c.77277A>G (TTN)	XP_024308867.1:p.Ser25759=
XM_024453100.1:c.67131A>G (TTN)	XP_024308868.1:p.Ser22377=