Canonical Allele Identifier: CA349611417

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433568C>A (hg19) ; chr2:g.178568841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568841C>A , CM000664.2:g.178568841C>A	GRCh38
NC_000002.11:g.179433568C>A , CM000664.1:g.179433568C>A	GRCh37
NC_000002.10:g.179141814C>A	NCBI36
NG_011618.3:g.266962G>T , LRG_391:g.266962G>T
NG_051363.1:g.51015C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69587G>T (TTN)	ENSP00000343764.6:p.Gly23196Val
ENST00000342175.11:c.50672G>T (TTN)	ENSP00000340554.6:p.Gly16891Val
ENST00000359218.10:c.50471G>T (TTN)	ENSP00000352154.5:p.Gly16824Val
ENST00000342175.10:c.50672G>T (TTN)	ENSP00000340554.6:p.Gly16891Val
ENST00000342992.10:c.69587G>T (TTN)	ENSP00000343764.6:p.Gly23196Val
ENST00000359218.9:c.50471G>T (TTN)	ENSP00000352154.5:p.Gly16824Val
ENST00000460472.6:c.50096G>T (TTN)	ENSP00000434586.1:p.Gly16699Val
ENST00000589042.5:c.77291G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly25764Val
ENST00000591111.5:c.72368G>T (TTN)	ENSP00000465570.1:p.Gly24123Val
ENST00000615779.4:c.72368G>T (TTN)	ENSP00000483597.1:p.Gly24123Val
NM_001256850.1:c.72368G>T (TTN)	NP_001243779.1:p.Gly24123Val
NM_001267550.2:c.77291G>T (TTN) MANE Select	NP_001254479.2:p.Gly25764Val
NM_003319.4:c.50096G>T (TTN)	NP_003310.4:p.Gly16699Val
NM_133378.4:c.69587G>T (TTN)	NP_596869.4:p.Gly23196Val
NM_133432.3:c.50471G>T (TTN)	NP_597676.3:p.Gly16824Val
NM_133437.4:c.50672G>T (TTN)	NP_597681.4:p.Gly16891Val
NR_038271.1:n.447-2459C>A (TTN-AS1)
NR_038272.1:n.2044-13731C>A (TTN-AS1)
XM_011511729.1:c.76388G>T (TTN)	XP_011510031.1:p.Gly25463Val
XM_011511730.1:c.50282G>T (TTN)	XP_011510032.1:p.Gly16761Val
XM_011511731.1:c.50141G>T (TTN)	XP_011510033.1:p.Gly16714Val
XM_017004819.1:c.76184G>T (TTN)	XP_016860308.1:p.Gly25395Val
XM_017004820.1:c.71582G>T (TTN)	XP_016860309.1:p.Gly23861Val
XM_017004821.1:c.71579G>T (TTN)	XP_016860310.1:p.Gly23860Val
XM_017004822.1:c.68621G>T (TTN)	XP_016860311.1:p.Gly22874Val
XM_017004823.1:c.50237G>T (TTN)	XP_016860312.1:p.Gly16746Val
XM_024453094.1:c.71732G>T (TTN)	XP_024308862.1:p.Gly23911Val
XM_024453095.1:c.71729G>T (TTN)	XP_024308863.1:p.Gly23910Val
XM_024453096.1:c.71162G>T (TTN)	XP_024308864.1:p.Gly23721Val
XM_024453097.1:c.68504G>T (TTN)	XP_024308865.1:p.Gly22835Val
XM_024453098.1:c.68423G>T (TTN)	XP_024308866.1:p.Gly22808Val
XM_024453099.1:c.50186G>T (TTN)	XP_024308867.1:p.Gly16729Val
XM_024453100.1:c.40040G>T (TTN)	XP_024308868.1:p.Gly13347Val