Canonical Allele Identifier: CA10605328

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 285995
• ClinVar RCV Id: RCV000278562 ; RCV003765635
• dbSNP Id: rs886043279
• MyVariant Identifiers: chr2:g.179397261G>C (hg19) ; chr2:g.178532534G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532534G>C , CM000664.2:g.178532534G>C	GRCh38
NC_000002.11:g.179397261G>C , CM000664.1:g.179397261G>C	GRCh37
NC_000002.10:g.179105507G>C	NCBI36
NG_011618.3:g.303269C>G , LRG_391:g.303269C>G
NG_051363.1:g.14708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96377C>G (TTN)	ENSP00000343764.6:p.Ser32126Ter
ENST00000342175.11:c.77462C>G (TTN)	ENSP00000340554.6:p.Ser25821Ter
ENST00000359218.10:c.77261C>G (TTN)	ENSP00000352154.5:p.Ser25754Ter
ENST00000342175.10:c.77462C>G (TTN)	ENSP00000340554.6:p.Ser25821Ter
ENST00000342992.10:c.96377C>G (TTN)	ENSP00000343764.6:p.Ser32126Ter
ENST00000359218.9:c.77261C>G (TTN)	ENSP00000352154.5:p.Ser25754Ter
ENST00000460472.6:c.76886C>G (TTN)	ENSP00000434586.1:p.Ser25629Ter
ENST00000589042.5:c.104081C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser34694Ter
ENST00000591111.5:c.99158C>G (TTN)	ENSP00000465570.1:p.Ser33053Ter
ENST00000615779.4:c.99158C>G (TTN)	ENSP00000483597.1:p.Ser33053Ter
NM_001256850.1:c.99158C>G (TTN)	NP_001243779.1:p.Ser33053Ter
NM_001267550.2:c.104081C>G (TTN) MANE Select	NP_001254479.2:p.Ser34694Ter
NM_003319.4:c.76886C>G (TTN)	NP_003310.4:p.Ser25629Ter
NM_133378.4:c.96377C>G (TTN)	NP_596869.4:p.Ser32126Ter
NM_133432.3:c.77261C>G (TTN)	NP_597676.3:p.Ser25754Ter
NM_133437.4:c.77462C>G (TTN)	NP_597681.4:p.Ser25821Ter
NR_038271.1:n.446+8898G>C (TTN-AS1)
NR_038272.1:n.220-3198G>C (TTN-AS1)
XM_011511729.1:c.103178C>G (TTN)	XP_011510031.1:p.Ser34393Ter
XM_011511730.1:c.77072C>G (TTN)	XP_011510032.1:p.Ser25691Ter
XM_011511731.1:c.76931C>G (TTN)	XP_011510033.1:p.Ser25644Ter
XM_017004819.1:c.102974C>G (TTN)	XP_016860308.1:p.Ser34325Ter
XM_017004820.1:c.98372C>G (TTN)	XP_016860309.1:p.Ser32791Ter
XM_017004821.1:c.98369C>G (TTN)	XP_016860310.1:p.Ser32790Ter
XM_017004822.1:c.95411C>G (TTN)	XP_016860311.1:p.Ser31804Ter
XM_017004823.1:c.77027C>G (TTN)	XP_016860312.1:p.Ser25676Ter
XM_024453094.1:c.98522C>G (TTN)	XP_024308862.1:p.Ser32841Ter
XM_024453095.1:c.98519C>G (TTN)	XP_024308863.1:p.Ser32840Ter
XM_024453096.1:c.97952C>G (TTN)	XP_024308864.1:p.Ser32651Ter
XM_024453097.1:c.95294C>G (TTN)	XP_024308865.1:p.Ser31765Ter
XM_024453098.1:c.95213C>G (TTN)	XP_024308866.1:p.Ser31738Ter
XM_024453099.1:c.76976C>G (TTN)	XP_024308867.1:p.Ser25659Ter
XM_024453100.1:c.66830C>G (TTN)	XP_024308868.1:p.Ser22277Ter