Canonical Allele Identifier: CA349411542

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2946440
• ClinVar RCV Id: RCV003806726
• MyVariant Identifiers: chr2:g.179396844G>C (hg19) ; chr2:g.178532117G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532117G>C , CM000664.2:g.178532117G>C	GRCh38
NC_000002.11:g.179396844G>C , CM000664.1:g.179396844G>C	GRCh37
NC_000002.10:g.179105090G>C	NCBI36
NG_011618.3:g.303686C>G , LRG_391:g.303686C>G
NG_051363.1:g.14291G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96794C>G (TTN)	ENSP00000343764.6:p.Ala32265Gly
ENST00000342175.11:c.77879C>G (TTN)	ENSP00000340554.6:p.Ala25960Gly
ENST00000359218.10:c.77678C>G (TTN)	ENSP00000352154.5:p.Ala25893Gly
ENST00000342175.10:c.77879C>G (TTN)	ENSP00000340554.6:p.Ala25960Gly
ENST00000342992.10:c.96794C>G (TTN)	ENSP00000343764.6:p.Ala32265Gly
ENST00000359218.9:c.77678C>G (TTN)	ENSP00000352154.5:p.Ala25893Gly
ENST00000460472.6:c.77303C>G (TTN)	ENSP00000434586.1:p.Ala25768Gly
ENST00000589042.5:c.104498C>G (TTN) MANE Select	ENSP00000467141.1:p.Ala34833Gly
ENST00000591111.5:c.99575C>G (TTN)	ENSP00000465570.1:p.Ala33192Gly
ENST00000615779.4:c.99575C>G (TTN)	ENSP00000483597.1:p.Ala33192Gly
NM_001256850.1:c.99575C>G (TTN)	NP_001243779.1:p.Ala33192Gly
NM_001267550.2:c.104498C>G (TTN) MANE Select	NP_001254479.2:p.Ala34833Gly
NM_003319.4:c.77303C>G (TTN)	NP_003310.4:p.Ala25768Gly
NM_133378.4:c.96794C>G (TTN)	NP_596869.4:p.Ala32265Gly
NM_133432.3:c.77678C>G (TTN)	NP_597676.3:p.Ala25893Gly
NM_133437.4:c.77879C>G (TTN)	NP_597681.4:p.Ala25960Gly
NR_038271.1:n.446+8481G>C (TTN-AS1)
NR_038272.1:n.220-3615G>C (TTN-AS1)
XM_011511729.1:c.103595C>G (TTN)	XP_011510031.1:p.Ala34532Gly
XM_011511730.1:c.77489C>G (TTN)	XP_011510032.1:p.Ala25830Gly
XM_011511731.1:c.77348C>G (TTN)	XP_011510033.1:p.Ala25783Gly
XM_017004819.1:c.103391C>G (TTN)	XP_016860308.1:p.Ala34464Gly
XM_017004820.1:c.98789C>G (TTN)	XP_016860309.1:p.Ala32930Gly
XM_017004821.1:c.98786C>G (TTN)	XP_016860310.1:p.Ala32929Gly
XM_017004822.1:c.95828C>G (TTN)	XP_016860311.1:p.Ala31943Gly
XM_017004823.1:c.77444C>G (TTN)	XP_016860312.1:p.Ala25815Gly
XM_024453094.1:c.98939C>G (TTN)	XP_024308862.1:p.Ala32980Gly
XM_024453095.1:c.98936C>G (TTN)	XP_024308863.1:p.Ala32979Gly
XM_024453096.1:c.98369C>G (TTN)	XP_024308864.1:p.Ala32790Gly
XM_024453097.1:c.95711C>G (TTN)	XP_024308865.1:p.Ala31904Gly
XM_024453098.1:c.95630C>G (TTN)	XP_024308866.1:p.Ala31877Gly
XM_024453099.1:c.77393C>G (TTN)	XP_024308867.1:p.Ala25798Gly
XM_024453100.1:c.67247C>G (TTN)	XP_024308868.1:p.Ala22416Gly