Canonical Allele Identifier: CA60953460

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 851369
• ClinVar RCV Id: RCV001055752
• dbSNP Id: rs746512551
• gnomAD v2: 2-179395287-G-C
• gnomAD v3: 2-178530560-G-C
• gnomAD v4: 2-178530560-G-C
• MyVariant Identifiers: chr2:g.179395287G>C (hg19) ; chr2:g.178530560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530560G>C , CM000664.2:g.178530560G>C	GRCh38
NC_000002.11:g.179395287G>C , CM000664.1:g.179395287G>C	GRCh37
NC_000002.10:g.179103533G>C	NCBI36
NG_011618.3:g.305243C>G , LRG_391:g.305243C>G
NG_051363.1:g.12734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98351C>G (TTN)	ENSP00000343764.6:p.Ser32784Cys
ENST00000342175.11:c.79436C>G (TTN)	ENSP00000340554.6:p.Ser26479Cys
ENST00000359218.10:c.79235C>G (TTN)	ENSP00000352154.5:p.Ser26412Cys
ENST00000342175.10:c.79436C>G (TTN)	ENSP00000340554.6:p.Ser26479Cys
ENST00000342992.10:c.98351C>G (TTN)	ENSP00000343764.6:p.Ser32784Cys
ENST00000359218.9:c.79235C>G (TTN)	ENSP00000352154.5:p.Ser26412Cys
ENST00000460472.6:c.78860C>G (TTN)	ENSP00000434586.1:p.Ser26287Cys
ENST00000589042.5:c.106055C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser35352Cys
ENST00000591111.5:c.101132C>G (TTN)	ENSP00000465570.1:p.Ser33711Cys
ENST00000615779.4:c.101132C>G (TTN)	ENSP00000483597.1:p.Ser33711Cys
NM_001256850.1:c.101132C>G (TTN)	NP_001243779.1:p.Ser33711Cys
NM_001267550.2:c.106055C>G (TTN) MANE Select	NP_001254479.2:p.Ser35352Cys
NM_003319.4:c.78860C>G (TTN)	NP_003310.4:p.Ser26287Cys
NM_133378.4:c.98351C>G (TTN)	NP_596869.4:p.Ser32784Cys
NM_133432.3:c.79235C>G (TTN)	NP_597676.3:p.Ser26412Cys
NM_133437.4:c.79436C>G (TTN)	NP_597681.4:p.Ser26479Cys
NR_038271.1:n.446+6924G>C (TTN-AS1)
NR_038272.1:n.220-5172G>C (TTN-AS1)
XM_011511729.1:c.105152C>G (TTN)	XP_011510031.1:p.Ser35051Cys
XM_011511730.1:c.79046C>G (TTN)	XP_011510032.1:p.Ser26349Cys
XM_011511731.1:c.78905C>G (TTN)	XP_011510033.1:p.Ser26302Cys
XM_017004819.1:c.104948C>G (TTN)	XP_016860308.1:p.Ser34983Cys
XM_017004820.1:c.100346C>G (TTN)	XP_016860309.1:p.Ser33449Cys
XM_017004821.1:c.100343C>G (TTN)	XP_016860310.1:p.Ser33448Cys
XM_017004822.1:c.97385C>G (TTN)	XP_016860311.1:p.Ser32462Cys
XM_017004823.1:c.79001C>G (TTN)	XP_016860312.1:p.Ser26334Cys
XM_024453094.1:c.100496C>G (TTN)	XP_024308862.1:p.Ser33499Cys
XM_024453095.1:c.100493C>G (TTN)	XP_024308863.1:p.Ser33498Cys
XM_024453096.1:c.99926C>G (TTN)	XP_024308864.1:p.Ser33309Cys
XM_024453097.1:c.97268C>G (TTN)	XP_024308865.1:p.Ser32423Cys
XM_024453098.1:c.97187C>G (TTN)	XP_024308866.1:p.Ser32396Cys
XM_024453099.1:c.78950C>G (TTN)	XP_024308867.1:p.Ser26317Cys
XM_024453100.1:c.68804C>G (TTN)	XP_024308868.1:p.Ser22935Cys