Canonical Allele Identifier: CA60978706

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs931707459
• gnomAD v2: 2-179418829-A-G
• gnomAD v4: 2-178554102-A-G
• MyVariant Identifiers: chr2:g.179418829A>G (hg19) ; chr2:g.178554102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178554102A>G , CM000664.2:g.178554102A>G	GRCh38
NC_000002.11:g.179418829A>G , CM000664.1:g.179418829A>G	GRCh37
NC_000002.10:g.179127075A>G	NCBI36
NG_011618.3:g.281701T>C , LRG_391:g.281701T>C
NG_051363.1:g.36276A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81305T>C (TTN)	ENSP00000343764.6:p.Leu27102Pro
ENST00000342175.11:c.62390T>C (TTN)	ENSP00000340554.6:p.Leu20797Pro
ENST00000359218.10:c.62189T>C (TTN)	ENSP00000352154.5:p.Leu20730Pro
ENST00000342175.10:c.62390T>C (TTN)	ENSP00000340554.6:p.Leu20797Pro
ENST00000342992.10:c.81305T>C (TTN)	ENSP00000343764.6:p.Leu27102Pro
ENST00000359218.9:c.62189T>C (TTN)	ENSP00000352154.5:p.Leu20730Pro
ENST00000460472.6:c.61814T>C (TTN)	ENSP00000434586.1:p.Leu20605Pro
ENST00000589042.5:c.89009T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu29670Pro
ENST00000591111.5:c.84086T>C (TTN)	ENSP00000465570.1:p.Leu28029Pro
ENST00000615779.4:c.84086T>C (TTN)	ENSP00000483597.1:p.Leu28029Pro
NM_001256850.1:c.84086T>C (TTN)	NP_001243779.1:p.Leu28029Pro
NM_001267550.2:c.89009T>C (TTN) MANE Select	NP_001254479.2:p.Leu29670Pro
NM_003319.4:c.61814T>C (TTN)	NP_003310.4:p.Leu20605Pro
NM_133378.4:c.81305T>C (TTN)	NP_596869.4:p.Leu27102Pro
NM_133432.3:c.62189T>C (TTN)	NP_597676.3:p.Leu20730Pro
NM_133437.4:c.62390T>C (TTN)	NP_597681.4:p.Leu20797Pro
NR_038271.1:n.447-17198A>G (TTN-AS1)
NR_038272.1:n.2043+11741A>G (TTN-AS1)
XM_011511729.1:c.88106T>C (TTN)	XP_011510031.1:p.Leu29369Pro
XM_011511730.1:c.62000T>C (TTN)	XP_011510032.1:p.Leu20667Pro
XM_011511731.1:c.61859T>C (TTN)	XP_011510033.1:p.Leu20620Pro
XM_017004819.1:c.87902T>C (TTN)	XP_016860308.1:p.Leu29301Pro
XM_017004820.1:c.83300T>C (TTN)	XP_016860309.1:p.Leu27767Pro
XM_017004821.1:c.83297T>C (TTN)	XP_016860310.1:p.Leu27766Pro
XM_017004822.1:c.80339T>C (TTN)	XP_016860311.1:p.Leu26780Pro
XM_017004823.1:c.61955T>C (TTN)	XP_016860312.1:p.Leu20652Pro
XM_024453094.1:c.83450T>C (TTN)	XP_024308862.1:p.Leu27817Pro
XM_024453095.1:c.83447T>C (TTN)	XP_024308863.1:p.Leu27816Pro
XM_024453096.1:c.82880T>C (TTN)	XP_024308864.1:p.Leu27627Pro
XM_024453097.1:c.80222T>C (TTN)	XP_024308865.1:p.Leu26741Pro
XM_024453098.1:c.80141T>C (TTN)	XP_024308866.1:p.Leu26714Pro
XM_024453099.1:c.61904T>C (TTN)	XP_024308867.1:p.Leu20635Pro
XM_024453100.1:c.51758T>C (TTN)	XP_024308868.1:p.Leu17253Pro