Canonical Allele Identifier: CA60953491

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs985272969
• MyVariant Identifiers: chr2:g.179395313C>G (hg19) ; chr2:g.178530586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530586C>G , CM000664.2:g.178530586C>G	GRCh38
NC_000002.11:g.179395313C>G , CM000664.1:g.179395313C>G	GRCh37
NC_000002.10:g.179103559C>G	NCBI36
NG_011618.3:g.305217G>C , LRG_391:g.305217G>C
NG_051363.1:g.12760C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98325G>C (TTN)	ENSP00000343764.6:p.Glu32775Asp
ENST00000342175.11:c.79410G>C (TTN)	ENSP00000340554.6:p.Glu26470Asp
ENST00000359218.10:c.79209G>C (TTN)	ENSP00000352154.5:p.Glu26403Asp
ENST00000342175.10:c.79410G>C (TTN)	ENSP00000340554.6:p.Glu26470Asp
ENST00000342992.10:c.98325G>C (TTN)	ENSP00000343764.6:p.Glu32775Asp
ENST00000359218.9:c.79209G>C (TTN)	ENSP00000352154.5:p.Glu26403Asp
ENST00000460472.6:c.78834G>C (TTN)	ENSP00000434586.1:p.Glu26278Asp
ENST00000589042.5:c.106029G>C (TTN) MANE Select	ENSP00000467141.1:p.Glu35343Asp
ENST00000591111.5:c.101106G>C (TTN)	ENSP00000465570.1:p.Glu33702Asp
ENST00000615779.4:c.101106G>C (TTN)	ENSP00000483597.1:p.Glu33702Asp
NM_001256850.1:c.101106G>C (TTN)	NP_001243779.1:p.Glu33702Asp
NM_001267550.2:c.106029G>C (TTN) MANE Select	NP_001254479.2:p.Glu35343Asp
NM_003319.4:c.78834G>C (TTN)	NP_003310.4:p.Glu26278Asp
NM_133378.4:c.98325G>C (TTN)	NP_596869.4:p.Glu32775Asp
NM_133432.3:c.79209G>C (TTN)	NP_597676.3:p.Glu26403Asp
NM_133437.4:c.79410G>C (TTN)	NP_597681.4:p.Glu26470Asp
NR_038271.1:n.446+6950C>G (TTN-AS1)
NR_038272.1:n.220-5146C>G (TTN-AS1)
XM_011511729.1:c.105126G>C (TTN)	XP_011510031.1:p.Glu35042Asp
XM_011511730.1:c.79020G>C (TTN)	XP_011510032.1:p.Glu26340Asp
XM_011511731.1:c.78879G>C (TTN)	XP_011510033.1:p.Glu26293Asp
XM_017004819.1:c.104922G>C (TTN)	XP_016860308.1:p.Glu34974Asp
XM_017004820.1:c.100320G>C (TTN)	XP_016860309.1:p.Glu33440Asp
XM_017004821.1:c.100317G>C (TTN)	XP_016860310.1:p.Glu33439Asp
XM_017004822.1:c.97359G>C (TTN)	XP_016860311.1:p.Glu32453Asp
XM_017004823.1:c.78975G>C (TTN)	XP_016860312.1:p.Glu26325Asp
XM_024453094.1:c.100470G>C (TTN)	XP_024308862.1:p.Glu33490Asp
XM_024453095.1:c.100467G>C (TTN)	XP_024308863.1:p.Glu33489Asp
XM_024453096.1:c.99900G>C (TTN)	XP_024308864.1:p.Glu33300Asp
XM_024453097.1:c.97242G>C (TTN)	XP_024308865.1:p.Glu32414Asp
XM_024453098.1:c.97161G>C (TTN)	XP_024308866.1:p.Glu32387Asp
XM_024453099.1:c.78924G>C (TTN)	XP_024308867.1:p.Glu26308Asp
XM_024453100.1:c.68778G>C (TTN)	XP_024308868.1:p.Glu22926Asp