Canonical Allele Identifier: CA349620937

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs749230632
• gnomAD v4: 2-178570447-G-A
• MyVariant Identifiers: chr2:g.179435174G>A (hg19) ; chr2:g.178570447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570447G>A , CM000664.2:g.178570447G>A	GRCh38
NC_000002.11:g.179435174G>A , CM000664.1:g.179435174G>A	GRCh37
NC_000002.10:g.179143420G>A	NCBI36
NG_011618.3:g.265356C>T , LRG_391:g.265356C>T
NG_051363.1:g.52621G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67981C>T (TTN)	ENSP00000343764.6:p.Pro22661Ser
ENST00000342175.11:c.49066C>T (TTN)	ENSP00000340554.6:p.Pro16356Ser
ENST00000359218.10:c.48865C>T (TTN)	ENSP00000352154.5:p.Pro16289Ser
ENST00000342175.10:c.49066C>T (TTN)	ENSP00000340554.6:p.Pro16356Ser
ENST00000342992.10:c.67981C>T (TTN)	ENSP00000343764.6:p.Pro22661Ser
ENST00000359218.9:c.48865C>T (TTN)	ENSP00000352154.5:p.Pro16289Ser
ENST00000460472.6:c.48490C>T (TTN)	ENSP00000434586.1:p.Pro16164Ser
ENST00000589042.5:c.75685C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro25229Ser
ENST00000591111.5:c.70762C>T (TTN)	ENSP00000465570.1:p.Pro23588Ser
ENST00000615779.4:c.70762C>T (TTN)	ENSP00000483597.1:p.Pro23588Ser
NM_001256850.1:c.70762C>T (TTN)	NP_001243779.1:p.Pro23588Ser
NM_001267550.2:c.75685C>T (TTN) MANE Select	NP_001254479.2:p.Pro25229Ser
NM_003319.4:c.48490C>T (TTN)	NP_003310.4:p.Pro16164Ser
NM_133378.4:c.67981C>T (TTN)	NP_596869.4:p.Pro22661Ser
NM_133432.3:c.48865C>T (TTN)	NP_597676.3:p.Pro16289Ser
NM_133437.4:c.49066C>T (TTN)	NP_597681.4:p.Pro16356Ser
NR_038271.1:n.447-853G>A (TTN-AS1)
NR_038272.1:n.2044-12125G>A (TTN-AS1)
XM_011511729.1:c.74782C>T (TTN)	XP_011510031.1:p.Pro24928Ser
XM_011511730.1:c.48676C>T (TTN)	XP_011510032.1:p.Pro16226Ser
XM_011511731.1:c.48535C>T (TTN)	XP_011510033.1:p.Pro16179Ser
XM_017004819.1:c.74578C>T (TTN)	XP_016860308.1:p.Pro24860Ser
XM_017004820.1:c.69976C>T (TTN)	XP_016860309.1:p.Pro23326Ser
XM_017004821.1:c.69973C>T (TTN)	XP_016860310.1:p.Pro23325Ser
XM_017004822.1:c.67015C>T (TTN)	XP_016860311.1:p.Pro22339Ser
XM_017004823.1:c.48631C>T (TTN)	XP_016860312.1:p.Pro16211Ser
XM_024453094.1:c.70126C>T (TTN)	XP_024308862.1:p.Pro23376Ser
XM_024453095.1:c.70123C>T (TTN)	XP_024308863.1:p.Pro23375Ser
XM_024453096.1:c.69556C>T (TTN)	XP_024308864.1:p.Pro23186Ser
XM_024453097.1:c.66898C>T (TTN)	XP_024308865.1:p.Pro22300Ser
XM_024453098.1:c.66817C>T (TTN)	XP_024308866.1:p.Pro22273Ser
XM_024453099.1:c.48580C>T (TTN)	XP_024308867.1:p.Pro16194Ser
XM_024453100.1:c.38434C>T (TTN)	XP_024308868.1:p.Pro12812Ser