Canonical Allele Identifier: CA1992722

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs760619849
• ExAC: 2:179457796 G / A
• gnomAD v2: 2-179457796-G-A
• gnomAD v3: 2-178593069-G-A
• gnomAD v4: 2-178593069-G-A
• MyVariant Identifiers: chr2:g.179457796G>A (hg19) ; chr2:g.178593069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593069G>A , CM000664.2:g.178593069G>A	GRCh38
NC_000002.11:g.179457796G>A , CM000664.1:g.179457796G>A	GRCh37
NC_000002.10:g.179166042G>A	NCBI36
NG_011618.3:g.242734C>T , LRG_391:g.242734C>T
NG_051363.1:g.75243G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51346C>T (TTN)	ENSP00000343764.6:p.Pro17116Ser
ENST00000342175.11:c.32431C>T (TTN)	ENSP00000340554.6:p.Pro10811Ser
ENST00000359218.10:c.32230C>T (TTN)	ENSP00000352154.5:p.Pro10744Ser
ENST00000342175.10:c.32431C>T (TTN)	ENSP00000340554.6:p.Pro10811Ser
ENST00000342992.10:c.51346C>T (TTN)	ENSP00000343764.6:p.Pro17116Ser
ENST00000359218.9:c.32230C>T (TTN)	ENSP00000352154.5:p.Pro10744Ser
ENST00000460472.6:c.31855C>T (TTN)	ENSP00000434586.1:p.Pro10619Ser
ENST00000589042.5:c.59050C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19684Ser
ENST00000591111.5:c.54127C>T (TTN)	ENSP00000465570.1:p.Pro18043Ser
ENST00000615779.4:c.54127C>T (TTN)	ENSP00000483597.1:p.Pro18043Ser
NM_001256850.1:c.54127C>T (TTN)	NP_001243779.1:p.Pro18043Ser
NM_001267550.2:c.59050C>T (TTN) MANE Select	NP_001254479.2:p.Pro19684Ser
NM_003319.4:c.31855C>T (TTN)	NP_003310.4:p.Pro10619Ser
NM_133378.4:c.51346C>T (TTN)	NP_596869.4:p.Pro17116Ser
NM_133432.3:c.32230C>T (TTN)	NP_597676.3:p.Pro10744Ser
NM_133437.4:c.32431C>T (TTN)	NP_597681.4:p.Pro10811Ser
NR_038271.1:n.597-4527G>A (TTN-AS1)
NR_038272.1:n.3364+1755G>A (TTN-AS1)
XM_011511729.1:c.58147C>T (TTN)	XP_011510031.1:p.Pro19383Ser
XM_011511730.1:c.32041C>T (TTN)	XP_011510032.1:p.Pro10681Ser
XM_011511731.1:c.31900C>T (TTN)	XP_011510033.1:p.Pro10634Ser
XM_017004819.1:c.57943C>T (TTN)	XP_016860308.1:p.Pro19315Ser
XM_017004820.1:c.53341C>T (TTN)	XP_016860309.1:p.Pro17781Ser
XM_017004821.1:c.53338C>T (TTN)	XP_016860310.1:p.Pro17780Ser
XM_017004822.1:c.50380C>T (TTN)	XP_016860311.1:p.Pro16794Ser
XM_017004823.1:c.31996C>T (TTN)	XP_016860312.1:p.Pro10666Ser
XM_024453094.1:c.53491C>T (TTN)	XP_024308862.1:p.Pro17831Ser
XM_024453095.1:c.53488C>T (TTN)	XP_024308863.1:p.Pro17830Ser
XM_024453096.1:c.52921C>T (TTN)	XP_024308864.1:p.Pro17641Ser
XM_024453097.1:c.50263C>T (TTN)	XP_024308865.1:p.Pro16755Ser
XM_024453098.1:c.50182C>T (TTN)	XP_024308866.1:p.Pro16728Ser
XM_024453099.1:c.31945C>T (TTN)	XP_024308867.1:p.Pro10649Ser
XM_024453100.1:c.21799C>T (TTN)	XP_024308868.1:p.Pro7267Ser