Canonical Allele Identifier: CA349618832

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482950T>G (hg19) ; chr2:g.178618223T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618223T>G , CM000664.2:g.178618223T>G	GRCh38
NC_000002.11:g.179482950T>G , CM000664.1:g.179482950T>G	GRCh37
NC_000002.10:g.179191195T>G	NCBI36
NG_011618.3:g.217580A>C , LRG_391:g.217580A>C
NG_051363.1:g.100397T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39531A>C (TTN)	ENSP00000343764.6:p.Glu13177Asp
ENST00000342175.11:c.20616A>C (TTN)	ENSP00000340554.6:p.Glu6872Asp
ENST00000359218.10:c.20415A>C (TTN)	ENSP00000352154.5:p.Glu6805Asp
ENST00000342175.10:c.20616A>C (TTN)	ENSP00000340554.6:p.Glu6872Asp
ENST00000342992.10:c.39531A>C (TTN)	ENSP00000343764.6:p.Glu13177Asp
ENST00000359218.9:c.20415A>C (TTN)	ENSP00000352154.5:p.Glu6805Asp
ENST00000460472.6:c.20040A>C (TTN)	ENSP00000434586.1:p.Glu6680Asp
ENST00000589042.5:c.47235A>C (TTN) MANE Select	ENSP00000467141.1:p.Glu15745Asp
ENST00000591111.5:c.42312A>C (TTN)	ENSP00000465570.1:p.Glu14104Asp
ENST00000615779.4:c.42312A>C (TTN)	ENSP00000483597.1:p.Glu14104Asp
NM_001256850.1:c.42312A>C (TTN)	NP_001243779.1:p.Glu14104Asp
NM_001267550.2:c.47235A>C (TTN) MANE Select	NP_001254479.2:p.Glu15745Asp
NM_003319.4:c.20040A>C (TTN)	NP_003310.4:p.Glu6680Asp
NM_133378.4:c.39531A>C (TTN)	NP_596869.4:p.Glu13177Asp
NM_133432.3:c.20415A>C (TTN)	NP_597676.3:p.Glu6805Asp
NM_133437.4:c.20616A>C (TTN)	NP_597681.4:p.Glu6872Asp
NR_038271.1:n.1605-1530T>G (TTN-AS1)
XM_011511729.1:c.46332A>C (TTN)	XP_011510031.1:p.Glu15444Asp
XM_011511730.1:c.20226A>C (TTN)	XP_011510032.1:p.Glu6742Asp
XM_011511731.1:c.20085A>C (TTN)	XP_011510033.1:p.Glu6695Asp
XM_017004819.1:c.46128A>C (TTN)	XP_016860308.1:p.Glu15376Asp
XM_017004820.1:c.41526A>C (TTN)	XP_016860309.1:p.Glu13842Asp
XM_017004821.1:c.41523A>C (TTN)	XP_016860310.1:p.Glu13841Asp
XM_017004822.1:c.38565A>C (TTN)	XP_016860311.1:p.Glu12855Asp
XM_017004823.1:c.20181A>C (TTN)	XP_016860312.1:p.Glu6727Asp
XM_024453094.1:c.41676A>C (TTN)	XP_024308862.1:p.Glu13892Asp
XM_024453095.1:c.41673A>C (TTN)	XP_024308863.1:p.Glu13891Asp
XM_024453096.1:c.41106A>C (TTN)	XP_024308864.1:p.Glu13702Asp
XM_024453097.1:c.38448A>C (TTN)	XP_024308865.1:p.Glu12816Asp
XM_024453098.1:c.38367A>C (TTN)	XP_024308866.1:p.Glu12789Asp
XM_024453099.1:c.20130A>C (TTN)	XP_024308867.1:p.Glu6710Asp
XM_024453100.1:c.9984A>C (TTN)	XP_024308868.1:p.Glu3328Asp