Canonical Allele Identifier: CA349628913

Gene: TTN

Linked Data

• dbSNP Id: rs2154210947
• MyVariant Identifiers: chr2:g.179485064T>G (hg19) ; chr2:g.178620337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178620337T>G , CM000664.2:g.178620337T>G	GRCh38
NC_000002.11:g.179485064T>G , CM000664.1:g.179485064T>G	GRCh37
NC_000002.10:g.179193309T>G	NCBI36
NG_011618.3:g.215466A>C , LRG_391:g.215466A>C
NG_051363.1:g.102511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.38480A>C	ENSP00000343764.6:p.Glu12827Ala
ENST00000342175.11:c.19565A>C	ENSP00000340554.6:p.Glu6522Ala
ENST00000359218.10:c.19364A>C	ENSP00000352154.5:p.Glu6455Ala
ENST00000342175.10:c.19565A>C	ENSP00000340554.6:p.Glu6522Ala
ENST00000342992.10:c.38480A>C	ENSP00000343764.6:p.Glu12827Ala
ENST00000359218.9:c.19364A>C	ENSP00000352154.5:p.Glu6455Ala
ENST00000460472.6:c.18989A>C	ENSP00000434586.1:p.Glu6330Ala
ENST00000589042.5:c.46184A>C MANE Select	ENSP00000467141.1:p.Glu15395Ala
ENST00000591111.5:c.41261A>C	ENSP00000465570.1:p.Glu13754Ala
ENST00000615779.4:c.41261A>C	ENSP00000483597.1:p.Glu13754Ala
NM_001256850.1:c.41261A>C	NP_001243779.1:p.Glu13754Ala
NM_001267550.2:c.46184A>C MANE Select	NP_001254479.2:p.Glu15395Ala
NM_003319.4:c.18989A>C	NP_003310.4:p.Glu6330Ala
NM_133378.4:c.38480A>C	NP_596869.4:p.Glu12827Ala
NM_133432.3:c.19364A>C	NP_597676.3:p.Glu6455Ala
NM_133437.4:c.19565A>C	NP_597681.4:p.Glu6522Ala
XM_011511729.1:c.45281A>C	XP_011510031.1:p.Glu15094Ala
XM_011511730.1:c.19175A>C	XP_011510032.1:p.Glu6392Ala
XM_011511731.1:c.19034A>C	XP_011510033.1:p.Glu6345Ala
XM_017004819.1:c.45077A>C	XP_016860308.1:p.Glu15026Ala
XM_017004820.1:c.40475A>C	XP_016860309.1:p.Glu13492Ala
XM_017004821.1:c.40472A>C	XP_016860310.1:p.Glu13491Ala
XM_017004822.1:c.37514A>C	XP_016860311.1:p.Glu12505Ala
XM_017004823.1:c.19130A>C	XP_016860312.1:p.Glu6377Ala
XM_024453094.1:c.40625A>C	XP_024308862.1:p.Glu13542Ala
XM_024453095.1:c.40622A>C	XP_024308863.1:p.Glu13541Ala
XM_024453096.1:c.40055A>C	XP_024308864.1:p.Glu13352Ala
XM_024453097.1:c.37397A>C	XP_024308865.1:p.Glu12466Ala
XM_024453098.1:c.37316A>C	XP_024308866.1:p.Glu12439Ala
XM_024453099.1:c.19079A>C	XP_024308867.1:p.Glu6360Ala
XM_024453100.1:c.8933A>C	XP_024308868.1:p.Glu2978Ala