Canonical Allele Identifier: CA349427269

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1575322300
• gnomAD v4: 2-178537242-A-T
• MyVariant Identifiers: chr2:g.179401969A>T (hg19) ; chr2:g.178537242A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537242A>T , CM000664.2:g.178537242A>T	GRCh38
NC_000002.11:g.179401969A>T , CM000664.1:g.179401969A>T	GRCh37
NC_000002.10:g.179110215A>T	NCBI36
NG_011618.3:g.298561T>A , LRG_391:g.298561T>A
NG_051363.1:g.19416A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.92163T>A (TTN)	ENSP00000343764.6:p.Asp30721Glu
ENST00000342175.11:c.73248T>A (TTN)	ENSP00000340554.6:p.Asp24416Glu
ENST00000359218.10:c.73047T>A (TTN)	ENSP00000352154.5:p.Asp24349Glu
ENST00000342175.10:c.73248T>A (TTN)	ENSP00000340554.6:p.Asp24416Glu
ENST00000342992.10:c.92163T>A (TTN)	ENSP00000343764.6:p.Asp30721Glu
ENST00000359218.9:c.73047T>A (TTN)	ENSP00000352154.5:p.Asp24349Glu
ENST00000460472.6:c.72672T>A (TTN)	ENSP00000434586.1:p.Asp24224Glu
ENST00000589042.5:c.99867T>A (TTN) MANE Select	ENSP00000467141.1:p.Asp33289Glu
ENST00000591111.5:c.94944T>A (TTN)	ENSP00000465570.1:p.Asp31648Glu
ENST00000615779.4:c.94944T>A (TTN)	ENSP00000483597.1:p.Asp31648Glu
NM_001256850.1:c.94944T>A (TTN)	NP_001243779.1:p.Asp31648Glu
NM_001267550.2:c.99867T>A (TTN) MANE Select	NP_001254479.2:p.Asp33289Glu
NM_003319.4:c.72672T>A (TTN)	NP_003310.4:p.Asp24224Glu
NM_133378.4:c.92163T>A (TTN)	NP_596869.4:p.Asp30721Glu
NM_133432.3:c.73047T>A (TTN)	NP_597676.3:p.Asp24349Glu
NM_133437.4:c.73248T>A (TTN)	NP_597681.4:p.Asp24416Glu
NR_038271.1:n.446+13606A>T (TTN-AS1)
NR_038272.1:n.317-119A>T (TTN-AS1)
XM_011511729.1:c.98964T>A (TTN)	XP_011510031.1:p.Asp32988Glu
XM_011511730.1:c.72858T>A (TTN)	XP_011510032.1:p.Asp24286Glu
XM_011511731.1:c.72717T>A (TTN)	XP_011510033.1:p.Asp24239Glu
XM_017004819.1:c.98760T>A (TTN)	XP_016860308.1:p.Asp32920Glu
XM_017004820.1:c.94158T>A (TTN)	XP_016860309.1:p.Asp31386Glu
XM_017004821.1:c.94155T>A (TTN)	XP_016860310.1:p.Asp31385Glu
XM_017004822.1:c.91197T>A (TTN)	XP_016860311.1:p.Asp30399Glu
XM_017004823.1:c.72813T>A (TTN)	XP_016860312.1:p.Asp24271Glu
XM_024453094.1:c.94308T>A (TTN)	XP_024308862.1:p.Asp31436Glu
XM_024453095.1:c.94305T>A (TTN)	XP_024308863.1:p.Asp31435Glu
XM_024453096.1:c.93738T>A (TTN)	XP_024308864.1:p.Asp31246Glu
XM_024453097.1:c.91080T>A (TTN)	XP_024308865.1:p.Asp30360Glu
XM_024453098.1:c.90999T>A (TTN)	XP_024308866.1:p.Asp30333Glu
XM_024453099.1:c.72762T>A (TTN)	XP_024308867.1:p.Asp24254Glu
XM_024453100.1:c.62616T>A (TTN)	XP_024308868.1:p.Asp20872Glu