Canonical Allele Identifier: CA349640253

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179489223A>T (hg19) ; chr2:g.178624496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178624496A>T , CM000664.2:g.178624496A>T	GRCh38
NC_000002.11:g.179489223A>T , CM000664.1:g.179489223A>T	GRCh37
NC_000002.10:g.179197468A>T	NCBI36
NG_011618.3:g.211307T>A , LRG_391:g.211307T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37080T>A	ENSP00000343764.6:p.Asp12360Glu
ENST00000342175.11:c.18165T>A	ENSP00000340554.6:p.Asp6055Glu
ENST00000359218.10:c.17964T>A	ENSP00000352154.5:p.Asp5988Glu
ENST00000342175.10:c.18165T>A	ENSP00000340554.6:p.Asp6055Glu
ENST00000342992.10:c.37080T>A	ENSP00000343764.6:p.Asp12360Glu
ENST00000359218.9:c.17964T>A	ENSP00000352154.5:p.Asp5988Glu
ENST00000460472.6:c.17589T>A	ENSP00000434586.1:p.Asp5863Glu
ENST00000589042.5:c.44784T>A MANE Select	ENSP00000467141.1:p.Asp14928Glu
ENST00000591111.5:c.39861T>A	ENSP00000465570.1:p.Asp13287Glu
ENST00000615779.4:c.39861T>A	ENSP00000483597.1:p.Asp13287Glu
NM_001256850.1:c.39861T>A	NP_001243779.1:p.Asp13287Glu
NM_001267550.2:c.44784T>A MANE Select	NP_001254479.2:p.Asp14928Glu
NM_003319.4:c.17589T>A	NP_003310.4:p.Asp5863Glu
NM_133378.4:c.37080T>A	NP_596869.4:p.Asp12360Glu
NM_133432.3:c.17964T>A	NP_597676.3:p.Asp5988Glu
NM_133437.4:c.18165T>A	NP_597681.4:p.Asp6055Glu
XM_011511729.1:c.43881T>A	XP_011510031.1:p.Asp14627Glu
XM_011511730.1:c.17775T>A	XP_011510032.1:p.Asp5925Glu
XM_011511731.1:c.17634T>A	XP_011510033.1:p.Asp5878Glu
XM_017004819.1:c.43677T>A	XP_016860308.1:p.Asp14559Glu
XM_017004820.1:c.39075T>A	XP_016860309.1:p.Asp13025Glu
XM_017004821.1:c.39072T>A	XP_016860310.1:p.Asp13024Glu
XM_017004822.1:c.36114T>A	XP_016860311.1:p.Asp12038Glu
XM_017004823.1:c.17730T>A	XP_016860312.1:p.Asp5910Glu
XM_024453094.1:c.39225T>A	XP_024308862.1:p.Asp13075Glu
XM_024453095.1:c.39222T>A	XP_024308863.1:p.Asp13074Glu
XM_024453096.1:c.38655T>A	XP_024308864.1:p.Asp12885Glu
XM_024453097.1:c.35997T>A	XP_024308865.1:p.Asp11999Glu
XM_024453098.1:c.35916T>A	XP_024308866.1:p.Asp11972Glu
XM_024453099.1:c.17679T>A	XP_024308867.1:p.Asp5893Glu
XM_024453100.1:c.7533T>A	XP_024308868.1:p.Asp2511Glu