Canonical Allele Identifier: CA349407010

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1200663369
• gnomAD v2: 2-179395230-T-C
• MyVariant Identifiers: chr2:g.179395230T>C (hg19) ; chr2:g.178530503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530503T>C , CM000664.2:g.178530503T>C	GRCh38
NC_000002.11:g.179395230T>C , CM000664.1:g.179395230T>C	GRCh37
NC_000002.10:g.179103476T>C	NCBI36
NG_011618.3:g.305300A>G , LRG_391:g.305300A>G
NG_051363.1:g.12677T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98408A>G (TTN)	ENSP00000343764.6:p.Asn32803Ser
ENST00000342175.11:c.79493A>G (TTN)	ENSP00000340554.6:p.Asn26498Ser
ENST00000359218.10:c.79292A>G (TTN)	ENSP00000352154.5:p.Asn26431Ser
ENST00000342175.10:c.79493A>G (TTN)	ENSP00000340554.6:p.Asn26498Ser
ENST00000342992.10:c.98408A>G (TTN)	ENSP00000343764.6:p.Asn32803Ser
ENST00000359218.9:c.79292A>G (TTN)	ENSP00000352154.5:p.Asn26431Ser
ENST00000460472.6:c.78917A>G (TTN)	ENSP00000434586.1:p.Asn26306Ser
ENST00000589042.5:c.106112A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn35371Ser
ENST00000591111.5:c.101189A>G (TTN)	ENSP00000465570.1:p.Asn33730Ser
ENST00000615779.4:c.101189A>G (TTN)	ENSP00000483597.1:p.Asn33730Ser
NM_001256850.1:c.101189A>G (TTN)	NP_001243779.1:p.Asn33730Ser
NM_001267550.2:c.106112A>G (TTN) MANE Select	NP_001254479.2:p.Asn35371Ser
NM_003319.4:c.78917A>G (TTN)	NP_003310.4:p.Asn26306Ser
NM_133378.4:c.98408A>G (TTN)	NP_596869.4:p.Asn32803Ser
NM_133432.3:c.79292A>G (TTN)	NP_597676.3:p.Asn26431Ser
NM_133437.4:c.79493A>G (TTN)	NP_597681.4:p.Asn26498Ser
NR_038271.1:n.446+6867T>C (TTN-AS1)
NR_038272.1:n.220-5229T>C (TTN-AS1)
XM_011511729.1:c.105209A>G (TTN)	XP_011510031.1:p.Asn35070Ser
XM_011511730.1:c.79103A>G (TTN)	XP_011510032.1:p.Asn26368Ser
XM_011511731.1:c.78962A>G (TTN)	XP_011510033.1:p.Asn26321Ser
XM_017004819.1:c.105005A>G (TTN)	XP_016860308.1:p.Asn35002Ser
XM_017004820.1:c.100403A>G (TTN)	XP_016860309.1:p.Asn33468Ser
XM_017004821.1:c.100400A>G (TTN)	XP_016860310.1:p.Asn33467Ser
XM_017004822.1:c.97442A>G (TTN)	XP_016860311.1:p.Asn32481Ser
XM_017004823.1:c.79058A>G (TTN)	XP_016860312.1:p.Asn26353Ser
XM_024453094.1:c.100553A>G (TTN)	XP_024308862.1:p.Asn33518Ser
XM_024453095.1:c.100550A>G (TTN)	XP_024308863.1:p.Asn33517Ser
XM_024453096.1:c.99983A>G (TTN)	XP_024308864.1:p.Asn33328Ser
XM_024453097.1:c.97325A>G (TTN)	XP_024308865.1:p.Asn32442Ser
XM_024453098.1:c.97244A>G (TTN)	XP_024308866.1:p.Asn32415Ser
XM_024453099.1:c.79007A>G (TTN)	XP_024308867.1:p.Asn26336Ser
XM_024453100.1:c.68861A>G (TTN)	XP_024308868.1:p.Asn22954Ser