Canonical Allele Identifier: CA430235433

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1307017855
• gnomAD v2: 2-179395301-A-G
• gnomAD v4: 2-178530574-A-G
• MyVariant Identifiers: chr2:g.179395301A>G (hg19) ; chr2:g.178530574A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530574A>G , CM000664.2:g.178530574A>G	GRCh38
NC_000002.11:g.179395301A>G , CM000664.1:g.179395301A>G	GRCh37
NC_000002.10:g.179103547A>G	NCBI36
NG_011618.3:g.305229T>C , LRG_391:g.305229T>C
NG_051363.1:g.12748A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98337T>C (TTN)	ENSP00000343764.6:p.Asn32779=
ENST00000342175.11:c.79422T>C (TTN)	ENSP00000340554.6:p.Asn26474=
ENST00000359218.10:c.79221T>C (TTN)	ENSP00000352154.5:p.Asn26407=
ENST00000342175.10:c.79422T>C (TTN)	ENSP00000340554.6:p.Asn26474=
ENST00000342992.10:c.98337T>C (TTN)	ENSP00000343764.6:p.Asn32779=
ENST00000359218.9:c.79221T>C (TTN)	ENSP00000352154.5:p.Asn26407=
ENST00000460472.6:c.78846T>C (TTN)	ENSP00000434586.1:p.Asn26282=
ENST00000589042.5:c.106041T>C (TTN) MANE Select	ENSP00000467141.1:p.Asn35347=
ENST00000591111.5:c.101118T>C (TTN)	ENSP00000465570.1:p.Asn33706=
ENST00000615779.4:c.101118T>C (TTN)	ENSP00000483597.1:p.Asn33706=
NM_001256850.1:c.101118T>C (TTN)	NP_001243779.1:p.Asn33706=
NM_001267550.2:c.106041T>C (TTN) MANE Select	NP_001254479.2:p.Asn35347=
NM_003319.4:c.78846T>C (TTN)	NP_003310.4:p.Asn26282=
NM_133378.4:c.98337T>C (TTN)	NP_596869.4:p.Asn32779=
NM_133432.3:c.79221T>C (TTN)	NP_597676.3:p.Asn26407=
NM_133437.4:c.79422T>C (TTN)	NP_597681.4:p.Asn26474=
NR_038271.1:n.446+6938A>G (TTN-AS1)
NR_038272.1:n.220-5158A>G (TTN-AS1)
XM_011511729.1:c.105138T>C (TTN)	XP_011510031.1:p.Asn35046=
XM_011511730.1:c.79032T>C (TTN)	XP_011510032.1:p.Asn26344=
XM_011511731.1:c.78891T>C (TTN)	XP_011510033.1:p.Asn26297=
XM_017004819.1:c.104934T>C (TTN)	XP_016860308.1:p.Asn34978=
XM_017004820.1:c.100332T>C (TTN)	XP_016860309.1:p.Asn33444=
XM_017004821.1:c.100329T>C (TTN)	XP_016860310.1:p.Asn33443=
XM_017004822.1:c.97371T>C (TTN)	XP_016860311.1:p.Asn32457=
XM_017004823.1:c.78987T>C (TTN)	XP_016860312.1:p.Asn26329=
XM_024453094.1:c.100482T>C (TTN)	XP_024308862.1:p.Asn33494=
XM_024453095.1:c.100479T>C (TTN)	XP_024308863.1:p.Asn33493=
XM_024453096.1:c.99912T>C (TTN)	XP_024308864.1:p.Asn33304=
XM_024453097.1:c.97254T>C (TTN)	XP_024308865.1:p.Asn32418=
XM_024453098.1:c.97173T>C (TTN)	XP_024308866.1:p.Asn32391=
XM_024453099.1:c.78936T>C (TTN)	XP_024308867.1:p.Asn26312=
XM_024453100.1:c.68790T>C (TTN)	XP_024308868.1:p.Asn22930=