Canonical Allele Identifier: CA349628919

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179485065C>G (hg19) ; chr2:g.178620338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178620338C>G , CM000664.2:g.178620338C>G	GRCh38
NC_000002.11:g.179485065C>G , CM000664.1:g.179485065C>G	GRCh37
NC_000002.10:g.179193310C>G	NCBI36
NG_011618.3:g.215465G>C , LRG_391:g.215465G>C
NG_051363.1:g.102512C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38479G>C	ENSP00000343764.6:p.Glu12827Gln
ENST00000342175.11:c.19564G>C	ENSP00000340554.6:p.Glu6522Gln
ENST00000359218.10:c.19363G>C	ENSP00000352154.5:p.Glu6455Gln
ENST00000342175.10:c.19564G>C	ENSP00000340554.6:p.Glu6522Gln
ENST00000342992.10:c.38479G>C	ENSP00000343764.6:p.Glu12827Gln
ENST00000359218.9:c.19363G>C	ENSP00000352154.5:p.Glu6455Gln
ENST00000460472.6:c.18988G>C	ENSP00000434586.1:p.Glu6330Gln
ENST00000589042.5:c.46183G>C MANE Select	ENSP00000467141.1:p.Glu15395Gln
ENST00000591111.5:c.41260G>C	ENSP00000465570.1:p.Glu13754Gln
ENST00000615779.4:c.41260G>C	ENSP00000483597.1:p.Glu13754Gln
NM_001256850.1:c.41260G>C	NP_001243779.1:p.Glu13754Gln
NM_001267550.2:c.46183G>C MANE Select	NP_001254479.2:p.Glu15395Gln
NM_003319.4:c.18988G>C	NP_003310.4:p.Glu6330Gln
NM_133378.4:c.38479G>C	NP_596869.4:p.Glu12827Gln
NM_133432.3:c.19363G>C	NP_597676.3:p.Glu6455Gln
NM_133437.4:c.19564G>C	NP_597681.4:p.Glu6522Gln
XM_011511729.1:c.45280G>C	XP_011510031.1:p.Glu15094Gln
XM_011511730.1:c.19174G>C	XP_011510032.1:p.Glu6392Gln
XM_011511731.1:c.19033G>C	XP_011510033.1:p.Glu6345Gln
XM_017004819.1:c.45076G>C	XP_016860308.1:p.Glu15026Gln
XM_017004820.1:c.40474G>C	XP_016860309.1:p.Glu13492Gln
XM_017004821.1:c.40471G>C	XP_016860310.1:p.Glu13491Gln
XM_017004822.1:c.37513G>C	XP_016860311.1:p.Glu12505Gln
XM_017004823.1:c.19129G>C	XP_016860312.1:p.Glu6377Gln
XM_024453094.1:c.40624G>C	XP_024308862.1:p.Glu13542Gln
XM_024453095.1:c.40621G>C	XP_024308863.1:p.Glu13541Gln
XM_024453096.1:c.40054G>C	XP_024308864.1:p.Glu13352Gln
XM_024453097.1:c.37396G>C	XP_024308865.1:p.Glu12466Gln
XM_024453098.1:c.37315G>C	XP_024308866.1:p.Glu12439Gln
XM_024453099.1:c.19078G>C	XP_024308867.1:p.Glu6360Gln
XM_024453100.1:c.8932G>C	XP_024308868.1:p.Glu2978Gln