Canonical Allele Identifier: CA60972973

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs879156764
• gnomAD v3: 2-178547637-C-G
• gnomAD v4: 2-178547637-C-G
• MyVariant Identifiers: chr2:g.179412364C>G (hg19) ; chr2:g.178547637C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547637C>G , CM000664.2:g.178547637C>G	GRCh38
NC_000002.11:g.179412364C>G , CM000664.1:g.179412364C>G	GRCh37
NC_000002.10:g.179120610C>G	NCBI36
NG_011618.3:g.288166G>C , LRG_391:g.288166G>C
NG_051363.1:g.29811C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86285G>C (TTN)	ENSP00000343764.6:p.Trp28762Ser
ENST00000342175.11:c.67370G>C (TTN)	ENSP00000340554.6:p.Trp22457Ser
ENST00000359218.10:c.67169G>C (TTN)	ENSP00000352154.5:p.Trp22390Ser
ENST00000342175.10:c.67370G>C (TTN)	ENSP00000340554.6:p.Trp22457Ser
ENST00000342992.10:c.86285G>C (TTN)	ENSP00000343764.6:p.Trp28762Ser
ENST00000359218.9:c.67169G>C (TTN)	ENSP00000352154.5:p.Trp22390Ser
ENST00000460472.6:c.66794G>C (TTN)	ENSP00000434586.1:p.Trp22265Ser
ENST00000589042.5:c.93989G>C (TTN) MANE Select	ENSP00000467141.1:p.Trp31330Ser
ENST00000591111.5:c.89066G>C (TTN)	ENSP00000465570.1:p.Trp29689Ser
ENST00000615779.4:c.89066G>C (TTN)	ENSP00000483597.1:p.Trp29689Ser
NM_001256850.1:c.89066G>C (TTN)	NP_001243779.1:p.Trp29689Ser
NM_001267550.2:c.93989G>C (TTN) MANE Select	NP_001254479.2:p.Trp31330Ser
NM_003319.4:c.66794G>C (TTN)	NP_003310.4:p.Trp22265Ser
NM_133378.4:c.86285G>C (TTN)	NP_596869.4:p.Trp28762Ser
NM_133432.3:c.67169G>C (TTN)	NP_597676.3:p.Trp22390Ser
NM_133437.4:c.67370G>C (TTN)	NP_597681.4:p.Trp22457Ser
NR_038271.1:n.447-23663C>G (TTN-AS1)
NR_038272.1:n.2043+5276C>G (TTN-AS1)
XM_011511729.1:c.93086G>C (TTN)	XP_011510031.1:p.Trp31029Ser
XM_011511730.1:c.66980G>C (TTN)	XP_011510032.1:p.Trp22327Ser
XM_011511731.1:c.66839G>C (TTN)	XP_011510033.1:p.Trp22280Ser
XM_017004819.1:c.92882G>C (TTN)	XP_016860308.1:p.Trp30961Ser
XM_017004820.1:c.88280G>C (TTN)	XP_016860309.1:p.Trp29427Ser
XM_017004821.1:c.88277G>C (TTN)	XP_016860310.1:p.Trp29426Ser
XM_017004822.1:c.85319G>C (TTN)	XP_016860311.1:p.Trp28440Ser
XM_017004823.1:c.66935G>C (TTN)	XP_016860312.1:p.Trp22312Ser
XM_024453094.1:c.88430G>C (TTN)	XP_024308862.1:p.Trp29477Ser
XM_024453095.1:c.88427G>C (TTN)	XP_024308863.1:p.Trp29476Ser
XM_024453096.1:c.87860G>C (TTN)	XP_024308864.1:p.Trp29287Ser
XM_024453097.1:c.85202G>C (TTN)	XP_024308865.1:p.Trp28401Ser
XM_024453098.1:c.85121G>C (TTN)	XP_024308866.1:p.Trp28374Ser
XM_024453099.1:c.66884G>C (TTN)	XP_024308867.1:p.Trp22295Ser
XM_024453100.1:c.56738G>C (TTN)	XP_024308868.1:p.Trp18913Ser