Canonical Allele Identifier: CA349426853

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535602
• ClinVar RCV Id: RCV000643674
• dbSNP Id: rs879221791
• MyVariant Identifiers: chr2:g.179401776C>G (hg19) ; chr2:g.178537049C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537049C>G , CM000664.2:g.178537049C>G	GRCh38
NC_000002.11:g.179401776C>G , CM000664.1:g.179401776C>G	GRCh37
NC_000002.10:g.179110022C>G	NCBI36
NG_011618.3:g.298754G>C , LRG_391:g.298754G>C
NG_051363.1:g.19223C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92356G>C (TTN)	ENSP00000343764.6:p.Val30786Leu
ENST00000342175.11:c.73441G>C (TTN)	ENSP00000340554.6:p.Val24481Leu
ENST00000359218.10:c.73240G>C (TTN)	ENSP00000352154.5:p.Val24414Leu
ENST00000342175.10:c.73441G>C (TTN)	ENSP00000340554.6:p.Val24481Leu
ENST00000342992.10:c.92356G>C (TTN)	ENSP00000343764.6:p.Val30786Leu
ENST00000359218.9:c.73240G>C (TTN)	ENSP00000352154.5:p.Val24414Leu
ENST00000460472.6:c.72865G>C (TTN)	ENSP00000434586.1:p.Val24289Leu
ENST00000589042.5:c.100060G>C (TTN) MANE Select	ENSP00000467141.1:p.Val33354Leu
ENST00000591111.5:c.95137G>C (TTN)	ENSP00000465570.1:p.Val31713Leu
ENST00000615779.4:c.95137G>C (TTN)	ENSP00000483597.1:p.Val31713Leu
NM_001256850.1:c.95137G>C (TTN)	NP_001243779.1:p.Val31713Leu
NM_001267550.2:c.100060G>C (TTN) MANE Select	NP_001254479.2:p.Val33354Leu
NM_003319.4:c.72865G>C (TTN)	NP_003310.4:p.Val24289Leu
NM_133378.4:c.92356G>C (TTN)	NP_596869.4:p.Val30786Leu
NM_133432.3:c.73240G>C (TTN)	NP_597676.3:p.Val24414Leu
NM_133437.4:c.73441G>C (TTN)	NP_597681.4:p.Val24481Leu
NR_038271.1:n.446+13413C>G (TTN-AS1)
NR_038272.1:n.317-312C>G (TTN-AS1)
XM_011511729.1:c.99157G>C (TTN)	XP_011510031.1:p.Val33053Leu
XM_011511730.1:c.73051G>C (TTN)	XP_011510032.1:p.Val24351Leu
XM_011511731.1:c.72910G>C (TTN)	XP_011510033.1:p.Val24304Leu
XM_017004819.1:c.98953G>C (TTN)	XP_016860308.1:p.Val32985Leu
XM_017004820.1:c.94351G>C (TTN)	XP_016860309.1:p.Val31451Leu
XM_017004821.1:c.94348G>C (TTN)	XP_016860310.1:p.Val31450Leu
XM_017004822.1:c.91390G>C (TTN)	XP_016860311.1:p.Val30464Leu
XM_017004823.1:c.73006G>C (TTN)	XP_016860312.1:p.Val24336Leu
XM_024453094.1:c.94501G>C (TTN)	XP_024308862.1:p.Val31501Leu
XM_024453095.1:c.94498G>C (TTN)	XP_024308863.1:p.Val31500Leu
XM_024453096.1:c.93931G>C (TTN)	XP_024308864.1:p.Val31311Leu
XM_024453097.1:c.91273G>C (TTN)	XP_024308865.1:p.Val30425Leu
XM_024453098.1:c.91192G>C (TTN)	XP_024308866.1:p.Val30398Leu
XM_024453099.1:c.72955G>C (TTN)	XP_024308867.1:p.Val24319Leu
XM_024453100.1:c.62809G>C (TTN)	XP_024308868.1:p.Val20937Leu