Canonical Allele Identifier: CA349467493

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411038C>T (hg19) ; chr2:g.178546311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546311C>T , CM000664.2:g.178546311C>T	GRCh38
NC_000002.11:g.179411038C>T , CM000664.1:g.179411038C>T	GRCh37
NC_000002.10:g.179119284C>T	NCBI36
NG_011618.3:g.289492G>A , LRG_391:g.289492G>A
NG_051363.1:g.28485C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.87316G>A (TTN)	ENSP00000343764.6:p.Val29106Met
ENST00000342175.11:c.68401G>A (TTN)	ENSP00000340554.6:p.Val22801Met
ENST00000359218.10:c.68200G>A (TTN)	ENSP00000352154.5:p.Val22734Met
ENST00000342175.10:c.68401G>A (TTN)	ENSP00000340554.6:p.Val22801Met
ENST00000342992.10:c.87316G>A (TTN)	ENSP00000343764.6:p.Val29106Met
ENST00000359218.9:c.68200G>A (TTN)	ENSP00000352154.5:p.Val22734Met
ENST00000460472.6:c.67825G>A (TTN)	ENSP00000434586.1:p.Val22609Met
ENST00000589042.5:c.95020G>A (TTN) MANE Select	ENSP00000467141.1:p.Val31674Met
ENST00000591111.5:c.90097G>A (TTN)	ENSP00000465570.1:p.Val30033Met
ENST00000615779.4:c.90097G>A (TTN)	ENSP00000483597.1:p.Val30033Met
NM_001256850.1:c.90097G>A (TTN)	NP_001243779.1:p.Val30033Met
NM_001267550.2:c.95020G>A (TTN) MANE Select	NP_001254479.2:p.Val31674Met
NM_003319.4:c.67825G>A (TTN)	NP_003310.4:p.Val22609Met
NM_133378.4:c.87316G>A (TTN)	NP_596869.4:p.Val29106Met
NM_133432.3:c.68200G>A (TTN)	NP_597676.3:p.Val22734Met
NM_133437.4:c.68401G>A (TTN)	NP_597681.4:p.Val22801Met
NR_038271.1:n.446+22675C>T (TTN-AS1)
NR_038272.1:n.2043+3950C>T (TTN-AS1)
XM_011511729.1:c.94117G>A (TTN)	XP_011510031.1:p.Val31373Met
XM_011511730.1:c.68011G>A (TTN)	XP_011510032.1:p.Val22671Met
XM_011511731.1:c.67870G>A (TTN)	XP_011510033.1:p.Val22624Met
XM_017004819.1:c.93913G>A (TTN)	XP_016860308.1:p.Val31305Met
XM_017004820.1:c.89311G>A (TTN)	XP_016860309.1:p.Val29771Met
XM_017004821.1:c.89308G>A (TTN)	XP_016860310.1:p.Val29770Met
XM_017004822.1:c.86350G>A (TTN)	XP_016860311.1:p.Val28784Met
XM_017004823.1:c.67966G>A (TTN)	XP_016860312.1:p.Val22656Met
XM_024453094.1:c.89461G>A (TTN)	XP_024308862.1:p.Val29821Met
XM_024453095.1:c.89458G>A (TTN)	XP_024308863.1:p.Val29820Met
XM_024453096.1:c.88891G>A (TTN)	XP_024308864.1:p.Val29631Met
XM_024453097.1:c.86233G>A (TTN)	XP_024308865.1:p.Val28745Met
XM_024453098.1:c.86152G>A (TTN)	XP_024308866.1:p.Val28718Met
XM_024453099.1:c.67915G>A (TTN)	XP_024308867.1:p.Val22639Met
XM_024453100.1:c.57769G>A (TTN)	XP_024308868.1:p.Val19257Met