Canonical Allele Identifier: CA349427892

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402345G>A (hg19) ; chr2:g.178537618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537618G>A , CM000664.2:g.178537618G>A	GRCh38
NC_000002.11:g.179402345G>A , CM000664.1:g.179402345G>A	GRCh37
NC_000002.10:g.179110591G>A	NCBI36
NG_011618.3:g.298185C>T , LRG_391:g.298185C>T
NG_051363.1:g.19792G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91885C>T (TTN)	ENSP00000343764.6:p.His30629Tyr
ENST00000342175.11:c.72970C>T (TTN)	ENSP00000340554.6:p.His24324Tyr
ENST00000359218.10:c.72769C>T (TTN)	ENSP00000352154.5:p.His24257Tyr
ENST00000342175.10:c.72970C>T (TTN)	ENSP00000340554.6:p.His24324Tyr
ENST00000342992.10:c.91885C>T (TTN)	ENSP00000343764.6:p.His30629Tyr
ENST00000359218.9:c.72769C>T (TTN)	ENSP00000352154.5:p.His24257Tyr
ENST00000460472.6:c.72394C>T (TTN)	ENSP00000434586.1:p.His24132Tyr
ENST00000589042.5:c.99589C>T (TTN) MANE Select	ENSP00000467141.1:p.His33197Tyr
ENST00000591111.5:c.94666C>T (TTN)	ENSP00000465570.1:p.His31556Tyr
ENST00000615779.4:c.94666C>T (TTN)	ENSP00000483597.1:p.His31556Tyr
NM_001256850.1:c.94666C>T (TTN)	NP_001243779.1:p.His31556Tyr
NM_001267550.2:c.99589C>T (TTN) MANE Select	NP_001254479.2:p.His33197Tyr
NM_003319.4:c.72394C>T (TTN)	NP_003310.4:p.His24132Tyr
NM_133378.4:c.91885C>T (TTN)	NP_596869.4:p.His30629Tyr
NM_133432.3:c.72769C>T (TTN)	NP_597676.3:p.His24257Tyr
NM_133437.4:c.72970C>T (TTN)	NP_597681.4:p.His24324Tyr
NR_038271.1:n.446+13982G>A (TTN-AS1)
NR_038272.1:n.574G>A (TTN-AS1)
XM_011511729.1:c.98686C>T (TTN)	XP_011510031.1:p.His32896Tyr
XM_011511730.1:c.72580C>T (TTN)	XP_011510032.1:p.His24194Tyr
XM_011511731.1:c.72439C>T (TTN)	XP_011510033.1:p.His24147Tyr
XM_017004819.1:c.98482C>T (TTN)	XP_016860308.1:p.His32828Tyr
XM_017004820.1:c.93880C>T (TTN)	XP_016860309.1:p.His31294Tyr
XM_017004821.1:c.93877C>T (TTN)	XP_016860310.1:p.His31293Tyr
XM_017004822.1:c.90919C>T (TTN)	XP_016860311.1:p.His30307Tyr
XM_017004823.1:c.72535C>T (TTN)	XP_016860312.1:p.His24179Tyr
XM_024453094.1:c.94030C>T (TTN)	XP_024308862.1:p.His31344Tyr
XM_024453095.1:c.94027C>T (TTN)	XP_024308863.1:p.His31343Tyr
XM_024453096.1:c.93460C>T (TTN)	XP_024308864.1:p.His31154Tyr
XM_024453097.1:c.90802C>T (TTN)	XP_024308865.1:p.His30268Tyr
XM_024453098.1:c.90721C>T (TTN)	XP_024308866.1:p.His30241Tyr
XM_024453099.1:c.72484C>T (TTN)	XP_024308867.1:p.His24162Tyr
XM_024453100.1:c.62338C>T (TTN)	XP_024308868.1:p.His20780Tyr