Canonical Allele Identifier: CA349471412

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411479C>G (hg19) ; chr2:g.178546752C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546752C>G , CM000664.2:g.178546752C>G	GRCh38
NC_000002.11:g.179411479C>G , CM000664.1:g.179411479C>G	GRCh37
NC_000002.10:g.179119725C>G	NCBI36
NG_011618.3:g.289051G>C , LRG_391:g.289051G>C
NG_051363.1:g.28926C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86972G>C (TTN)	ENSP00000343764.6:p.Cys28991Ser
ENST00000342175.11:c.68057G>C (TTN)	ENSP00000340554.6:p.Cys22686Ser
ENST00000359218.10:c.67856G>C (TTN)	ENSP00000352154.5:p.Cys22619Ser
ENST00000342175.10:c.68057G>C (TTN)	ENSP00000340554.6:p.Cys22686Ser
ENST00000342992.10:c.86972G>C (TTN)	ENSP00000343764.6:p.Cys28991Ser
ENST00000359218.9:c.67856G>C (TTN)	ENSP00000352154.5:p.Cys22619Ser
ENST00000460472.6:c.67481G>C (TTN)	ENSP00000434586.1:p.Cys22494Ser
ENST00000589042.5:c.94676G>C (TTN) MANE Select	ENSP00000467141.1:p.Cys31559Ser
ENST00000591111.5:c.89753G>C (TTN)	ENSP00000465570.1:p.Cys29918Ser
ENST00000615779.4:c.89753G>C (TTN)	ENSP00000483597.1:p.Cys29918Ser
NM_001256850.1:c.89753G>C (TTN)	NP_001243779.1:p.Cys29918Ser
NM_001267550.2:c.94676G>C (TTN) MANE Select	NP_001254479.2:p.Cys31559Ser
NM_003319.4:c.67481G>C (TTN)	NP_003310.4:p.Cys22494Ser
NM_133378.4:c.86972G>C (TTN)	NP_596869.4:p.Cys28991Ser
NM_133432.3:c.67856G>C (TTN)	NP_597676.3:p.Cys22619Ser
NM_133437.4:c.68057G>C (TTN)	NP_597681.4:p.Cys22686Ser
NR_038271.1:n.446+23116C>G (TTN-AS1)
NR_038272.1:n.2043+4391C>G (TTN-AS1)
XM_011511729.1:c.93773G>C (TTN)	XP_011510031.1:p.Cys31258Ser
XM_011511730.1:c.67667G>C (TTN)	XP_011510032.1:p.Cys22556Ser
XM_011511731.1:c.67526G>C (TTN)	XP_011510033.1:p.Cys22509Ser
XM_017004819.1:c.93569G>C (TTN)	XP_016860308.1:p.Cys31190Ser
XM_017004820.1:c.88967G>C (TTN)	XP_016860309.1:p.Cys29656Ser
XM_017004821.1:c.88964G>C (TTN)	XP_016860310.1:p.Cys29655Ser
XM_017004822.1:c.86006G>C (TTN)	XP_016860311.1:p.Cys28669Ser
XM_017004823.1:c.67622G>C (TTN)	XP_016860312.1:p.Cys22541Ser
XM_024453094.1:c.89117G>C (TTN)	XP_024308862.1:p.Cys29706Ser
XM_024453095.1:c.89114G>C (TTN)	XP_024308863.1:p.Cys29705Ser
XM_024453096.1:c.88547G>C (TTN)	XP_024308864.1:p.Cys29516Ser
XM_024453097.1:c.85889G>C (TTN)	XP_024308865.1:p.Cys28630Ser
XM_024453098.1:c.85808G>C (TTN)	XP_024308866.1:p.Cys28603Ser
XM_024453099.1:c.67571G>C (TTN)	XP_024308867.1:p.Cys22524Ser
XM_024453100.1:c.57425G>C (TTN)	XP_024308868.1:p.Cys19142Ser