Canonical Allele Identifier: CA349411517

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396836G>C (hg19) ; chr2:g.178532109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532109G>C , CM000664.2:g.178532109G>C	GRCh38
NC_000002.11:g.179396836G>C , CM000664.1:g.179396836G>C	GRCh37
NC_000002.10:g.179105082G>C	NCBI36
NG_011618.3:g.303694C>G , LRG_391:g.303694C>G
NG_051363.1:g.14283G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.96802C>G (TTN)	ENSP00000343764.6:p.Leu32268Val
ENST00000342175.11:c.77887C>G (TTN)	ENSP00000340554.6:p.Leu25963Val
ENST00000359218.10:c.77686C>G (TTN)	ENSP00000352154.5:p.Leu25896Val
ENST00000342175.10:c.77887C>G (TTN)	ENSP00000340554.6:p.Leu25963Val
ENST00000342992.10:c.96802C>G (TTN)	ENSP00000343764.6:p.Leu32268Val
ENST00000359218.9:c.77686C>G (TTN)	ENSP00000352154.5:p.Leu25896Val
ENST00000460472.6:c.77311C>G (TTN)	ENSP00000434586.1:p.Leu25771Val
ENST00000589042.5:c.104506C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu34836Val
ENST00000591111.5:c.99583C>G (TTN)	ENSP00000465570.1:p.Leu33195Val
ENST00000615779.4:c.99583C>G (TTN)	ENSP00000483597.1:p.Leu33195Val
NM_001256850.1:c.99583C>G (TTN)	NP_001243779.1:p.Leu33195Val
NM_001267550.2:c.104506C>G (TTN) MANE Select	NP_001254479.2:p.Leu34836Val
NM_003319.4:c.77311C>G (TTN)	NP_003310.4:p.Leu25771Val
NM_133378.4:c.96802C>G (TTN)	NP_596869.4:p.Leu32268Val
NM_133432.3:c.77686C>G (TTN)	NP_597676.3:p.Leu25896Val
NM_133437.4:c.77887C>G (TTN)	NP_597681.4:p.Leu25963Val
NR_038271.1:n.446+8473G>C (TTN-AS1)
NR_038272.1:n.220-3623G>C (TTN-AS1)
XM_011511729.1:c.103603C>G (TTN)	XP_011510031.1:p.Leu34535Val
XM_011511730.1:c.77497C>G (TTN)	XP_011510032.1:p.Leu25833Val
XM_011511731.1:c.77356C>G (TTN)	XP_011510033.1:p.Leu25786Val
XM_017004819.1:c.103399C>G (TTN)	XP_016860308.1:p.Leu34467Val
XM_017004820.1:c.98797C>G (TTN)	XP_016860309.1:p.Leu32933Val
XM_017004821.1:c.98794C>G (TTN)	XP_016860310.1:p.Leu32932Val
XM_017004822.1:c.95836C>G (TTN)	XP_016860311.1:p.Leu31946Val
XM_017004823.1:c.77452C>G (TTN)	XP_016860312.1:p.Leu25818Val
XM_024453094.1:c.98947C>G (TTN)	XP_024308862.1:p.Leu32983Val
XM_024453095.1:c.98944C>G (TTN)	XP_024308863.1:p.Leu32982Val
XM_024453096.1:c.98377C>G (TTN)	XP_024308864.1:p.Leu32793Val
XM_024453097.1:c.95719C>G (TTN)	XP_024308865.1:p.Leu31907Val
XM_024453098.1:c.95638C>G (TTN)	XP_024308866.1:p.Leu31880Val
XM_024453099.1:c.77401C>G (TTN)	XP_024308867.1:p.Leu25801Val
XM_024453100.1:c.67255C>G (TTN)	XP_024308868.1:p.Leu22419Val