Canonical Allele Identifier: CA349411942

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396996A>C (hg19) ; chr2:g.178532269A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532269A>C , CM000664.2:g.178532269A>C	GRCh38
NC_000002.11:g.179396996A>C , CM000664.1:g.179396996A>C	GRCh37
NC_000002.10:g.179105242A>C	NCBI36
NG_011618.3:g.303534T>G , LRG_391:g.303534T>G
NG_051363.1:g.14443A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96642T>G (TTN)	ENSP00000343764.6:p.His32214Gln
ENST00000342175.11:c.77727T>G (TTN)	ENSP00000340554.6:p.His25909Gln
ENST00000359218.10:c.77526T>G (TTN)	ENSP00000352154.5:p.His25842Gln
ENST00000342175.10:c.77727T>G (TTN)	ENSP00000340554.6:p.His25909Gln
ENST00000342992.10:c.96642T>G (TTN)	ENSP00000343764.6:p.His32214Gln
ENST00000359218.9:c.77526T>G (TTN)	ENSP00000352154.5:p.His25842Gln
ENST00000460472.6:c.77151T>G (TTN)	ENSP00000434586.1:p.His25717Gln
ENST00000589042.5:c.104346T>G (TTN) MANE Select	ENSP00000467141.1:p.His34782Gln
ENST00000591111.5:c.99423T>G (TTN)	ENSP00000465570.1:p.His33141Gln
ENST00000615779.4:c.99423T>G (TTN)	ENSP00000483597.1:p.His33141Gln
NM_001256850.1:c.99423T>G (TTN)	NP_001243779.1:p.His33141Gln
NM_001267550.2:c.104346T>G (TTN) MANE Select	NP_001254479.2:p.His34782Gln
NM_003319.4:c.77151T>G (TTN)	NP_003310.4:p.His25717Gln
NM_133378.4:c.96642T>G (TTN)	NP_596869.4:p.His32214Gln
NM_133432.3:c.77526T>G (TTN)	NP_597676.3:p.His25842Gln
NM_133437.4:c.77727T>G (TTN)	NP_597681.4:p.His25909Gln
NR_038271.1:n.446+8633A>C (TTN-AS1)
NR_038272.1:n.220-3463A>C (TTN-AS1)
XM_011511729.1:c.103443T>G (TTN)	XP_011510031.1:p.His34481Gln
XM_011511730.1:c.77337T>G (TTN)	XP_011510032.1:p.His25779Gln
XM_011511731.1:c.77196T>G (TTN)	XP_011510033.1:p.His25732Gln
XM_017004819.1:c.103239T>G (TTN)	XP_016860308.1:p.His34413Gln
XM_017004820.1:c.98637T>G (TTN)	XP_016860309.1:p.His32879Gln
XM_017004821.1:c.98634T>G (TTN)	XP_016860310.1:p.His32878Gln
XM_017004822.1:c.95676T>G (TTN)	XP_016860311.1:p.His31892Gln
XM_017004823.1:c.77292T>G (TTN)	XP_016860312.1:p.His25764Gln
XM_024453094.1:c.98787T>G (TTN)	XP_024308862.1:p.His32929Gln
XM_024453095.1:c.98784T>G (TTN)	XP_024308863.1:p.His32928Gln
XM_024453096.1:c.98217T>G (TTN)	XP_024308864.1:p.His32739Gln
XM_024453097.1:c.95559T>G (TTN)	XP_024308865.1:p.His31853Gln
XM_024453098.1:c.95478T>G (TTN)	XP_024308866.1:p.His31826Gln
XM_024453099.1:c.77241T>G (TTN)	XP_024308867.1:p.His25747Gln
XM_024453100.1:c.67095T>G (TTN)	XP_024308868.1:p.His22365Gln