Canonical Allele Identifier: CA349467382

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546301-A-G
• MyVariant Identifiers: chr2:g.179411028A>G (hg19) ; chr2:g.178546301A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546301A>G , CM000664.2:g.178546301A>G	GRCh38
NC_000002.11:g.179411028A>G , CM000664.1:g.179411028A>G	GRCh37
NC_000002.10:g.179119274A>G	NCBI36
NG_011618.3:g.289502T>C , LRG_391:g.289502T>C
NG_051363.1:g.28475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.87326T>C (TTN)	ENSP00000343764.6:p.Phe29109Ser
ENST00000342175.11:c.68411T>C (TTN)	ENSP00000340554.6:p.Phe22804Ser
ENST00000359218.10:c.68210T>C (TTN)	ENSP00000352154.5:p.Phe22737Ser
ENST00000342175.10:c.68411T>C (TTN)	ENSP00000340554.6:p.Phe22804Ser
ENST00000342992.10:c.87326T>C (TTN)	ENSP00000343764.6:p.Phe29109Ser
ENST00000359218.9:c.68210T>C (TTN)	ENSP00000352154.5:p.Phe22737Ser
ENST00000460472.6:c.67835T>C (TTN)	ENSP00000434586.1:p.Phe22612Ser
ENST00000589042.5:c.95030T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe31677Ser
ENST00000591111.5:c.90107T>C (TTN)	ENSP00000465570.1:p.Phe30036Ser
ENST00000615779.4:c.90107T>C (TTN)	ENSP00000483597.1:p.Phe30036Ser
NM_001256850.1:c.90107T>C (TTN)	NP_001243779.1:p.Phe30036Ser
NM_001267550.2:c.95030T>C (TTN) MANE Select	NP_001254479.2:p.Phe31677Ser
NM_003319.4:c.67835T>C (TTN)	NP_003310.4:p.Phe22612Ser
NM_133378.4:c.87326T>C (TTN)	NP_596869.4:p.Phe29109Ser
NM_133432.3:c.68210T>C (TTN)	NP_597676.3:p.Phe22737Ser
NM_133437.4:c.68411T>C (TTN)	NP_597681.4:p.Phe22804Ser
NR_038271.1:n.446+22665A>G (TTN-AS1)
NR_038272.1:n.2043+3940A>G (TTN-AS1)
XM_011511729.1:c.94127T>C (TTN)	XP_011510031.1:p.Phe31376Ser
XM_011511730.1:c.68021T>C (TTN)	XP_011510032.1:p.Phe22674Ser
XM_011511731.1:c.67880T>C (TTN)	XP_011510033.1:p.Phe22627Ser
XM_017004819.1:c.93923T>C (TTN)	XP_016860308.1:p.Phe31308Ser
XM_017004820.1:c.89321T>C (TTN)	XP_016860309.1:p.Phe29774Ser
XM_017004821.1:c.89318T>C (TTN)	XP_016860310.1:p.Phe29773Ser
XM_017004822.1:c.86360T>C (TTN)	XP_016860311.1:p.Phe28787Ser
XM_017004823.1:c.67976T>C (TTN)	XP_016860312.1:p.Phe22659Ser
XM_024453094.1:c.89471T>C (TTN)	XP_024308862.1:p.Phe29824Ser
XM_024453095.1:c.89468T>C (TTN)	XP_024308863.1:p.Phe29823Ser
XM_024453096.1:c.88901T>C (TTN)	XP_024308864.1:p.Phe29634Ser
XM_024453097.1:c.86243T>C (TTN)	XP_024308865.1:p.Phe28748Ser
XM_024453098.1:c.86162T>C (TTN)	XP_024308866.1:p.Phe28721Ser
XM_024453099.1:c.67925T>C (TTN)	XP_024308867.1:p.Phe22642Ser
XM_024453100.1:c.57779T>C (TTN)	XP_024308868.1:p.Phe19260Ser