Canonical Allele Identifier: CA349591216

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430744C>G (hg19) ; chr2:g.178566017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566017C>G , CM000664.2:g.178566017C>G	GRCh38
NC_000002.11:g.179430744C>G , CM000664.1:g.179430744C>G	GRCh37
NC_000002.10:g.179138990C>G	NCBI36
NG_011618.3:g.269786G>C , LRG_391:g.269786G>C
NG_051363.1:g.48191C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72411G>C (TTN)	ENSP00000343764.6:p.Glu24137Asp
ENST00000342175.11:c.53496G>C (TTN)	ENSP00000340554.6:p.Glu17832Asp
ENST00000359218.10:c.53295G>C (TTN)	ENSP00000352154.5:p.Glu17765Asp
ENST00000342175.10:c.53496G>C (TTN)	ENSP00000340554.6:p.Glu17832Asp
ENST00000342992.10:c.72411G>C (TTN)	ENSP00000343764.6:p.Glu24137Asp
ENST00000359218.9:c.53295G>C (TTN)	ENSP00000352154.5:p.Glu17765Asp
ENST00000460472.6:c.52920G>C (TTN)	ENSP00000434586.1:p.Glu17640Asp
ENST00000589042.5:c.80115G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu26705Asp
ENST00000591111.5:c.75192G>C (TTN)	ENSP00000465570.1:p.Glu25064Asp
ENST00000615779.4:c.75192G>C (TTN)	ENSP00000483597.1:p.Glu25064Asp
NM_001256850.1:c.75192G>C (TTN)	NP_001243779.1:p.Glu25064Asp
NM_001267550.2:c.80115G>C (TTN) MANE Select	NP_001254479.2:p.Glu26705Asp
NM_003319.4:c.52920G>C (TTN)	NP_003310.4:p.Glu17640Asp
NM_133378.4:c.72411G>C (TTN)	NP_596869.4:p.Glu24137Asp
NM_133432.3:c.53295G>C (TTN)	NP_597676.3:p.Glu17765Asp
NM_133437.4:c.53496G>C (TTN)	NP_597681.4:p.Glu17832Asp
NR_038271.1:n.447-5283C>G (TTN-AS1)
NR_038272.1:n.2044-16555C>G (TTN-AS1)
XM_011511729.1:c.79212G>C (TTN)	XP_011510031.1:p.Glu26404Asp
XM_011511730.1:c.53106G>C (TTN)	XP_011510032.1:p.Glu17702Asp
XM_011511731.1:c.52965G>C (TTN)	XP_011510033.1:p.Glu17655Asp
XM_017004819.1:c.79008G>C (TTN)	XP_016860308.1:p.Glu26336Asp
XM_017004820.1:c.74406G>C (TTN)	XP_016860309.1:p.Glu24802Asp
XM_017004821.1:c.74403G>C (TTN)	XP_016860310.1:p.Glu24801Asp
XM_017004822.1:c.71445G>C (TTN)	XP_016860311.1:p.Glu23815Asp
XM_017004823.1:c.53061G>C (TTN)	XP_016860312.1:p.Glu17687Asp
XM_024453094.1:c.74556G>C (TTN)	XP_024308862.1:p.Glu24852Asp
XM_024453095.1:c.74553G>C (TTN)	XP_024308863.1:p.Glu24851Asp
XM_024453096.1:c.73986G>C (TTN)	XP_024308864.1:p.Glu24662Asp
XM_024453097.1:c.71328G>C (TTN)	XP_024308865.1:p.Glu23776Asp
XM_024453098.1:c.71247G>C (TTN)	XP_024308866.1:p.Glu23749Asp
XM_024453099.1:c.53010G>C (TTN)	XP_024308867.1:p.Glu17670Asp
XM_024453100.1:c.42864G>C (TTN)	XP_024308868.1:p.Glu14288Asp