Canonical Allele Identifier: CA349585626

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178565262-C-T
• MyVariant Identifiers: chr2:g.179429989C>T (hg19) ; chr2:g.178565262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565262C>T , CM000664.2:g.178565262C>T	GRCh38
NC_000002.11:g.179429989C>T , CM000664.1:g.179429989C>T	GRCh37
NC_000002.10:g.179138235C>T	NCBI36
NG_011618.3:g.270541G>A , LRG_391:g.270541G>A
NG_051363.1:g.47436C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73166G>A (TTN)	ENSP00000343764.6:p.Ser24389Asn
ENST00000342175.11:c.54251G>A (TTN)	ENSP00000340554.6:p.Ser18084Asn
ENST00000359218.10:c.54050G>A (TTN)	ENSP00000352154.5:p.Ser18017Asn
ENST00000342175.10:c.54251G>A (TTN)	ENSP00000340554.6:p.Ser18084Asn
ENST00000342992.10:c.73166G>A (TTN)	ENSP00000343764.6:p.Ser24389Asn
ENST00000359218.9:c.54050G>A (TTN)	ENSP00000352154.5:p.Ser18017Asn
ENST00000460472.6:c.53675G>A (TTN)	ENSP00000434586.1:p.Ser17892Asn
ENST00000589042.5:c.80870G>A (TTN) MANE Select	ENSP00000467141.1:p.Ser26957Asn
ENST00000591111.5:c.75947G>A (TTN)	ENSP00000465570.1:p.Ser25316Asn
ENST00000615779.4:c.75947G>A (TTN)	ENSP00000483597.1:p.Ser25316Asn
NM_001256850.1:c.75947G>A (TTN)	NP_001243779.1:p.Ser25316Asn
NM_001267550.2:c.80870G>A (TTN) MANE Select	NP_001254479.2:p.Ser26957Asn
NM_003319.4:c.53675G>A (TTN)	NP_003310.4:p.Ser17892Asn
NM_133378.4:c.73166G>A (TTN)	NP_596869.4:p.Ser24389Asn
NM_133432.3:c.54050G>A (TTN)	NP_597676.3:p.Ser18017Asn
NM_133437.4:c.54251G>A (TTN)	NP_597681.4:p.Ser18084Asn
NR_038271.1:n.447-6038C>T (TTN-AS1)
NR_038272.1:n.2044-17310C>T (TTN-AS1)
XM_011511729.1:c.79967G>A (TTN)	XP_011510031.1:p.Ser26656Asn
XM_011511730.1:c.53861G>A (TTN)	XP_011510032.1:p.Ser17954Asn
XM_011511731.1:c.53720G>A (TTN)	XP_011510033.1:p.Ser17907Asn
XM_017004819.1:c.79763G>A (TTN)	XP_016860308.1:p.Ser26588Asn
XM_017004820.1:c.75161G>A (TTN)	XP_016860309.1:p.Ser25054Asn
XM_017004821.1:c.75158G>A (TTN)	XP_016860310.1:p.Ser25053Asn
XM_017004822.1:c.72200G>A (TTN)	XP_016860311.1:p.Ser24067Asn
XM_017004823.1:c.53816G>A (TTN)	XP_016860312.1:p.Ser17939Asn
XM_024453094.1:c.75311G>A (TTN)	XP_024308862.1:p.Ser25104Asn
XM_024453095.1:c.75308G>A (TTN)	XP_024308863.1:p.Ser25103Asn
XM_024453096.1:c.74741G>A (TTN)	XP_024308864.1:p.Ser24914Asn
XM_024453097.1:c.72083G>A (TTN)	XP_024308865.1:p.Ser24028Asn
XM_024453098.1:c.72002G>A (TTN)	XP_024308866.1:p.Ser24001Asn
XM_024453099.1:c.53765G>A (TTN)	XP_024308867.1:p.Ser17922Asn
XM_024453100.1:c.43619G>A (TTN)	XP_024308868.1:p.Ser14540Asn