Canonical Allele Identifier: CA349398362

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 862999
• ClinVar RCV Id: RCV001069853
• dbSNP Id: rs1686706196
• MyVariant Identifiers: chr2:g.179391803A>T (hg19) ; chr2:g.178527076A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527076A>T , CM000664.2:g.178527076A>T	GRCh38
NC_000002.11:g.179391803A>T , CM000664.1:g.179391803A>T	GRCh37
NC_000002.10:g.179100049A>T	NCBI36
NG_011618.3:g.308727T>A , LRG_391:g.308727T>A
NG_051363.1:g.9250A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100208T>A (TTN)	ENSP00000343764.6:p.Leu33403Gln
ENST00000342175.11:c.81293T>A (TTN)	ENSP00000340554.6:p.Leu27098Gln
ENST00000359218.10:c.81092T>A (TTN)	ENSP00000352154.5:p.Leu27031Gln
ENST00000342175.10:c.81293T>A (TTN)	ENSP00000340554.6:p.Leu27098Gln
ENST00000342992.10:c.100208T>A (TTN)	ENSP00000343764.6:p.Leu33403Gln
ENST00000359218.9:c.81092T>A (TTN)	ENSP00000352154.5:p.Leu27031Gln
ENST00000460472.6:c.80717T>A (TTN)	ENSP00000434586.1:p.Leu26906Gln
ENST00000589042.5:c.107912T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu35971Gln
ENST00000591111.5:c.102989T>A (TTN)	ENSP00000465570.1:p.Leu34330Gln
ENST00000615779.4:c.102989T>A (TTN)	ENSP00000483597.1:p.Leu34330Gln
NM_001256850.1:c.102989T>A (TTN)	NP_001243779.1:p.Leu34330Gln
NM_001267550.2:c.107912T>A (TTN) MANE Select	NP_001254479.2:p.Leu35971Gln
NM_003319.4:c.80717T>A (TTN)	NP_003310.4:p.Leu26906Gln
NM_133378.4:c.100208T>A (TTN)	NP_596869.4:p.Leu33403Gln
NM_133432.3:c.81092T>A (TTN)	NP_597676.3:p.Leu27031Gln
NM_133437.4:c.81293T>A (TTN)	NP_597681.4:p.Leu27098Gln
NR_038271.1:n.446+3440A>T (TTN-AS1)
NR_038272.1:n.219+3440A>T (TTN-AS1)
XM_011511729.1:c.107009T>A (TTN)	XP_011510031.1:p.Leu35670Gln
XM_011511730.1:c.80903T>A (TTN)	XP_011510032.1:p.Leu26968Gln
XM_011511731.1:c.80762T>A (TTN)	XP_011510033.1:p.Leu26921Gln
XM_017004819.1:c.106805T>A (TTN)	XP_016860308.1:p.Leu35602Gln
XM_017004820.1:c.102203T>A (TTN)	XP_016860309.1:p.Leu34068Gln
XM_017004821.1:c.102200T>A (TTN)	XP_016860310.1:p.Leu34067Gln
XM_017004822.1:c.99242T>A (TTN)	XP_016860311.1:p.Leu33081Gln
XM_017004823.1:c.80858T>A (TTN)	XP_016860312.1:p.Leu26953Gln
XM_024453094.1:c.102353T>A (TTN)	XP_024308862.1:p.Leu34118Gln
XM_024453095.1:c.102350T>A (TTN)	XP_024308863.1:p.Leu34117Gln
XM_024453096.1:c.101783T>A (TTN)	XP_024308864.1:p.Leu33928Gln
XM_024453097.1:c.99125T>A (TTN)	XP_024308865.1:p.Leu33042Gln
XM_024453098.1:c.99044T>A (TTN)	XP_024308866.1:p.Leu33015Gln
XM_024453099.1:c.80807T>A (TTN)	XP_024308867.1:p.Leu26936Gln
XM_024453100.1:c.70661T>A (TTN)	XP_024308868.1:p.Leu23554Gln