Canonical Allele Identifier: CA349426894

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1575319690
• gnomAD v4: 2-178537070-A-G
• MyVariant Identifiers: chr2:g.179401797A>G (hg19) ; chr2:g.178537070A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537070A>G , CM000664.2:g.178537070A>G	GRCh38
NC_000002.11:g.179401797A>G , CM000664.1:g.179401797A>G	GRCh37
NC_000002.10:g.179110043A>G	NCBI36
NG_011618.3:g.298733T>C , LRG_391:g.298733T>C
NG_051363.1:g.19244A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92335T>C (TTN)	ENSP00000343764.6:p.Ser30779Pro
ENST00000342175.11:c.73420T>C (TTN)	ENSP00000340554.6:p.Ser24474Pro
ENST00000359218.10:c.73219T>C (TTN)	ENSP00000352154.5:p.Ser24407Pro
ENST00000342175.10:c.73420T>C (TTN)	ENSP00000340554.6:p.Ser24474Pro
ENST00000342992.10:c.92335T>C (TTN)	ENSP00000343764.6:p.Ser30779Pro
ENST00000359218.9:c.73219T>C (TTN)	ENSP00000352154.5:p.Ser24407Pro
ENST00000460472.6:c.72844T>C (TTN)	ENSP00000434586.1:p.Ser24282Pro
ENST00000589042.5:c.100039T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser33347Pro
ENST00000591111.5:c.95116T>C (TTN)	ENSP00000465570.1:p.Ser31706Pro
ENST00000615779.4:c.95116T>C (TTN)	ENSP00000483597.1:p.Ser31706Pro
NM_001256850.1:c.95116T>C (TTN)	NP_001243779.1:p.Ser31706Pro
NM_001267550.2:c.100039T>C (TTN) MANE Select	NP_001254479.2:p.Ser33347Pro
NM_003319.4:c.72844T>C (TTN)	NP_003310.4:p.Ser24282Pro
NM_133378.4:c.92335T>C (TTN)	NP_596869.4:p.Ser30779Pro
NM_133432.3:c.73219T>C (TTN)	NP_597676.3:p.Ser24407Pro
NM_133437.4:c.73420T>C (TTN)	NP_597681.4:p.Ser24474Pro
NR_038271.1:n.446+13434A>G (TTN-AS1)
NR_038272.1:n.317-291A>G (TTN-AS1)
XM_011511729.1:c.99136T>C (TTN)	XP_011510031.1:p.Ser33046Pro
XM_011511730.1:c.73030T>C (TTN)	XP_011510032.1:p.Ser24344Pro
XM_011511731.1:c.72889T>C (TTN)	XP_011510033.1:p.Ser24297Pro
XM_017004819.1:c.98932T>C (TTN)	XP_016860308.1:p.Ser32978Pro
XM_017004820.1:c.94330T>C (TTN)	XP_016860309.1:p.Ser31444Pro
XM_017004821.1:c.94327T>C (TTN)	XP_016860310.1:p.Ser31443Pro
XM_017004822.1:c.91369T>C (TTN)	XP_016860311.1:p.Ser30457Pro
XM_017004823.1:c.72985T>C (TTN)	XP_016860312.1:p.Ser24329Pro
XM_024453094.1:c.94480T>C (TTN)	XP_024308862.1:p.Ser31494Pro
XM_024453095.1:c.94477T>C (TTN)	XP_024308863.1:p.Ser31493Pro
XM_024453096.1:c.93910T>C (TTN)	XP_024308864.1:p.Ser31304Pro
XM_024453097.1:c.91252T>C (TTN)	XP_024308865.1:p.Ser30418Pro
XM_024453098.1:c.91171T>C (TTN)	XP_024308866.1:p.Ser30391Pro
XM_024453099.1:c.72934T>C (TTN)	XP_024308867.1:p.Ser24312Pro
XM_024453100.1:c.62788T>C (TTN)	XP_024308868.1:p.Ser20930Pro