Canonical Allele Identifier: CA349423560

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1394859997
• gnomAD v2: 2-179444396-C-T
• MyVariant Identifiers: chr2:g.179444396C>T (hg19) ; chr2:g.178579669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579669C>T , CM000664.2:g.178579669C>T	GRCh38
NC_000002.11:g.179444396C>T , CM000664.1:g.179444396C>T	GRCh37
NC_000002.10:g.179152642C>T	NCBI36
NG_011618.3:g.256134G>A , LRG_391:g.256134G>A
NG_051363.1:g.61843C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59824G>A (TTN)	ENSP00000343764.6:p.Ala19942Thr
ENST00000342175.11:c.40909G>A (TTN)	ENSP00000340554.6:p.Ala13637Thr
ENST00000359218.10:c.40708G>A (TTN)	ENSP00000352154.5:p.Ala13570Thr
ENST00000342175.10:c.40909G>A (TTN)	ENSP00000340554.6:p.Ala13637Thr
ENST00000342992.10:c.59824G>A (TTN)	ENSP00000343764.6:p.Ala19942Thr
ENST00000359218.9:c.40708G>A (TTN)	ENSP00000352154.5:p.Ala13570Thr
ENST00000460472.6:c.40333G>A (TTN)	ENSP00000434586.1:p.Ala13445Thr
ENST00000589042.5:c.67528G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala22510Thr
ENST00000591111.5:c.62605G>A (TTN)	ENSP00000465570.1:p.Ala20869Thr
ENST00000615779.4:c.62605G>A (TTN)	ENSP00000483597.1:p.Ala20869Thr
NM_001256850.1:c.62605G>A (TTN)	NP_001243779.1:p.Ala20869Thr
NM_001267550.2:c.67528G>A (TTN) MANE Select	NP_001254479.2:p.Ala22510Thr
NM_003319.4:c.40333G>A (TTN)	NP_003310.4:p.Ala13445Thr
NM_133378.4:c.59824G>A (TTN)	NP_596869.4:p.Ala19942Thr
NM_133432.3:c.40708G>A (TTN)	NP_597676.3:p.Ala13570Thr
NM_133437.4:c.40909G>A (TTN)	NP_597681.4:p.Ala13637Thr
NR_038271.1:n.596+8220C>T (TTN-AS1)
NR_038272.1:n.2044-2903C>T (TTN-AS1)
XM_011511729.1:c.66625G>A (TTN)	XP_011510031.1:p.Ala22209Thr
XM_011511730.1:c.40519G>A (TTN)	XP_011510032.1:p.Ala13507Thr
XM_011511731.1:c.40378G>A (TTN)	XP_011510033.1:p.Ala13460Thr
XM_017004819.1:c.66421G>A (TTN)	XP_016860308.1:p.Ala22141Thr
XM_017004820.1:c.61819G>A (TTN)	XP_016860309.1:p.Ala20607Thr
XM_017004821.1:c.61816G>A (TTN)	XP_016860310.1:p.Ala20606Thr
XM_017004822.1:c.58858G>A (TTN)	XP_016860311.1:p.Ala19620Thr
XM_017004823.1:c.40474G>A (TTN)	XP_016860312.1:p.Ala13492Thr
XM_024453094.1:c.61969G>A (TTN)	XP_024308862.1:p.Ala20657Thr
XM_024453095.1:c.61966G>A (TTN)	XP_024308863.1:p.Ala20656Thr
XM_024453096.1:c.61399G>A (TTN)	XP_024308864.1:p.Ala20467Thr
XM_024453097.1:c.58741G>A (TTN)	XP_024308865.1:p.Ala19581Thr
XM_024453098.1:c.58660G>A (TTN)	XP_024308866.1:p.Ala19554Thr
XM_024453099.1:c.40423G>A (TTN)	XP_024308867.1:p.Ala13475Thr
XM_024453100.1:c.30277G>A (TTN)	XP_024308868.1:p.Ala10093Thr