Canonical Allele Identifier: CA349434760

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179404679C>G (hg19) ; chr2:g.178539952C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539952C>G , CM000664.2:g.178539952C>G	GRCh38
NC_000002.11:g.179404679C>G , CM000664.1:g.179404679C>G	GRCh37
NC_000002.10:g.179112925C>G	NCBI36
NG_011618.3:g.295851G>C , LRG_391:g.295851G>C
NG_051363.1:g.22126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90409G>C (TTN)	ENSP00000343764.6:p.Glu30137Gln
ENST00000342175.11:c.71494G>C (TTN)	ENSP00000340554.6:p.Glu23832Gln
ENST00000359218.10:c.71293G>C (TTN)	ENSP00000352154.5:p.Glu23765Gln
ENST00000342175.10:c.71494G>C (TTN)	ENSP00000340554.6:p.Glu23832Gln
ENST00000342992.10:c.90409G>C (TTN)	ENSP00000343764.6:p.Glu30137Gln
ENST00000359218.9:c.71293G>C (TTN)	ENSP00000352154.5:p.Glu23765Gln
ENST00000460472.6:c.70918G>C (TTN)	ENSP00000434586.1:p.Glu23640Gln
ENST00000589042.5:c.98113G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu32705Gln
ENST00000591111.5:c.93190G>C (TTN)	ENSP00000465570.1:p.Glu31064Gln
ENST00000615779.4:c.93190G>C (TTN)	ENSP00000483597.1:p.Glu31064Gln
NM_001256850.1:c.93190G>C (TTN)	NP_001243779.1:p.Glu31064Gln
NM_001267550.2:c.98113G>C (TTN) MANE Select	NP_001254479.2:p.Glu32705Gln
NM_003319.4:c.70918G>C (TTN)	NP_003310.4:p.Glu23640Gln
NM_133378.4:c.90409G>C (TTN)	NP_596869.4:p.Glu30137Gln
NM_133432.3:c.71293G>C (TTN)	NP_597676.3:p.Glu23765Gln
NM_133437.4:c.71494G>C (TTN)	NP_597681.4:p.Glu23832Gln
NR_038271.1:n.446+16316C>G (TTN-AS1)
NR_038272.1:n.1840+62C>G (TTN-AS1)
XM_011511729.1:c.97210G>C (TTN)	XP_011510031.1:p.Glu32404Gln
XM_011511730.1:c.71104G>C (TTN)	XP_011510032.1:p.Glu23702Gln
XM_011511731.1:c.70963G>C (TTN)	XP_011510033.1:p.Glu23655Gln
XM_017004819.1:c.97006G>C (TTN)	XP_016860308.1:p.Glu32336Gln
XM_017004820.1:c.92404G>C (TTN)	XP_016860309.1:p.Glu30802Gln
XM_017004821.1:c.92401G>C (TTN)	XP_016860310.1:p.Glu30801Gln
XM_017004822.1:c.89443G>C (TTN)	XP_016860311.1:p.Glu29815Gln
XM_017004823.1:c.71059G>C (TTN)	XP_016860312.1:p.Glu23687Gln
XM_024453094.1:c.92554G>C (TTN)	XP_024308862.1:p.Glu30852Gln
XM_024453095.1:c.92551G>C (TTN)	XP_024308863.1:p.Glu30851Gln
XM_024453096.1:c.91984G>C (TTN)	XP_024308864.1:p.Glu30662Gln
XM_024453097.1:c.89326G>C (TTN)	XP_024308865.1:p.Glu29776Gln
XM_024453098.1:c.89245G>C (TTN)	XP_024308866.1:p.Glu29749Gln
XM_024453099.1:c.71008G>C (TTN)	XP_024308867.1:p.Glu23670Gln
XM_024453100.1:c.60862G>C (TTN)	XP_024308868.1:p.Glu20288Gln