Canonical Allele Identifier: CA349405373

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178530070-C-G
• MyVariant Identifiers: chr2:g.179394797C>G (hg19) ; chr2:g.178530070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530070C>G , CM000664.2:g.178530070C>G	GRCh38
NC_000002.11:g.179394797C>G , CM000664.1:g.179394797C>G	GRCh37
NC_000002.10:g.179103043C>G	NCBI36
NG_011618.3:g.305733G>C , LRG_391:g.305733G>C
NG_051363.1:g.12244C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98717G>C (TTN)	ENSP00000343764.6:p.Gly32906Ala
ENST00000342175.11:c.79802G>C (TTN)	ENSP00000340554.6:p.Gly26601Ala
ENST00000359218.10:c.79601G>C (TTN)	ENSP00000352154.5:p.Gly26534Ala
ENST00000342175.10:c.79802G>C (TTN)	ENSP00000340554.6:p.Gly26601Ala
ENST00000342992.10:c.98717G>C (TTN)	ENSP00000343764.6:p.Gly32906Ala
ENST00000359218.9:c.79601G>C (TTN)	ENSP00000352154.5:p.Gly26534Ala
ENST00000460472.6:c.79226G>C (TTN)	ENSP00000434586.1:p.Gly26409Ala
ENST00000589042.5:c.106421G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly35474Ala
ENST00000591111.5:c.101498G>C (TTN)	ENSP00000465570.1:p.Gly33833Ala
ENST00000615779.4:c.101498G>C (TTN)	ENSP00000483597.1:p.Gly33833Ala
NM_001256850.1:c.101498G>C (TTN)	NP_001243779.1:p.Gly33833Ala
NM_001267550.2:c.106421G>C (TTN) MANE Select	NP_001254479.2:p.Gly35474Ala
NM_003319.4:c.79226G>C (TTN)	NP_003310.4:p.Gly26409Ala
NM_133378.4:c.98717G>C (TTN)	NP_596869.4:p.Gly32906Ala
NM_133432.3:c.79601G>C (TTN)	NP_597676.3:p.Gly26534Ala
NM_133437.4:c.79802G>C (TTN)	NP_597681.4:p.Gly26601Ala
NR_038271.1:n.446+6434C>G (TTN-AS1)
NR_038272.1:n.220-5662C>G (TTN-AS1)
XM_011511729.1:c.105518G>C (TTN)	XP_011510031.1:p.Gly35173Ala
XM_011511730.1:c.79412G>C (TTN)	XP_011510032.1:p.Gly26471Ala
XM_011511731.1:c.79271G>C (TTN)	XP_011510033.1:p.Gly26424Ala
XM_017004819.1:c.105314G>C (TTN)	XP_016860308.1:p.Gly35105Ala
XM_017004820.1:c.100712G>C (TTN)	XP_016860309.1:p.Gly33571Ala
XM_017004821.1:c.100709G>C (TTN)	XP_016860310.1:p.Gly33570Ala
XM_017004822.1:c.97751G>C (TTN)	XP_016860311.1:p.Gly32584Ala
XM_017004823.1:c.79367G>C (TTN)	XP_016860312.1:p.Gly26456Ala
XM_024453094.1:c.100862G>C (TTN)	XP_024308862.1:p.Gly33621Ala
XM_024453095.1:c.100859G>C (TTN)	XP_024308863.1:p.Gly33620Ala
XM_024453096.1:c.100292G>C (TTN)	XP_024308864.1:p.Gly33431Ala
XM_024453097.1:c.97634G>C (TTN)	XP_024308865.1:p.Gly32545Ala
XM_024453098.1:c.97553G>C (TTN)	XP_024308866.1:p.Gly32518Ala
XM_024453099.1:c.79316G>C (TTN)	XP_024308867.1:p.Gly26439Ala
XM_024453100.1:c.69170G>C (TTN)	XP_024308868.1:p.Gly23057Ala