Canonical Allele Identifier: CA349624741

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs938587020
• gnomAD v4: 2-178570630-T-G
• MyVariant Identifiers: chr2:g.179435357T>G (hg19) ; chr2:g.178570630T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570630T>G , CM000664.2:g.178570630T>G	GRCh38
NC_000002.11:g.179435357T>G , CM000664.1:g.179435357T>G	GRCh37
NC_000002.10:g.179143603T>G	NCBI36
NG_011618.3:g.265173A>C , LRG_391:g.265173A>C
NG_051363.1:g.52804T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67798A>C (TTN)	ENSP00000343764.6:p.Ser22600Arg
ENST00000342175.11:c.48883A>C (TTN)	ENSP00000340554.6:p.Ser16295Arg
ENST00000359218.10:c.48682A>C (TTN)	ENSP00000352154.5:p.Ser16228Arg
ENST00000342175.10:c.48883A>C (TTN)	ENSP00000340554.6:p.Ser16295Arg
ENST00000342992.10:c.67798A>C (TTN)	ENSP00000343764.6:p.Ser22600Arg
ENST00000359218.9:c.48682A>C (TTN)	ENSP00000352154.5:p.Ser16228Arg
ENST00000460472.6:c.48307A>C (TTN)	ENSP00000434586.1:p.Ser16103Arg
ENST00000589042.5:c.75502A>C (TTN) MANE Select	ENSP00000467141.1:p.Ser25168Arg
ENST00000591111.5:c.70579A>C (TTN)	ENSP00000465570.1:p.Ser23527Arg
ENST00000615779.4:c.70579A>C (TTN)	ENSP00000483597.1:p.Ser23527Arg
NM_001256850.1:c.70579A>C (TTN)	NP_001243779.1:p.Ser23527Arg
NM_001267550.2:c.75502A>C (TTN) MANE Select	NP_001254479.2:p.Ser25168Arg
NM_003319.4:c.48307A>C (TTN)	NP_003310.4:p.Ser16103Arg
NM_133378.4:c.67798A>C (TTN)	NP_596869.4:p.Ser22600Arg
NM_133432.3:c.48682A>C (TTN)	NP_597676.3:p.Ser16228Arg
NM_133437.4:c.48883A>C (TTN)	NP_597681.4:p.Ser16295Arg
NR_038271.1:n.447-670T>G (TTN-AS1)
NR_038272.1:n.2044-11942T>G (TTN-AS1)
XM_011511729.1:c.74599A>C (TTN)	XP_011510031.1:p.Ser24867Arg
XM_011511730.1:c.48493A>C (TTN)	XP_011510032.1:p.Ser16165Arg
XM_011511731.1:c.48352A>C (TTN)	XP_011510033.1:p.Ser16118Arg
XM_017004819.1:c.74395A>C (TTN)	XP_016860308.1:p.Ser24799Arg
XM_017004820.1:c.69793A>C (TTN)	XP_016860309.1:p.Ser23265Arg
XM_017004821.1:c.69790A>C (TTN)	XP_016860310.1:p.Ser23264Arg
XM_017004822.1:c.66832A>C (TTN)	XP_016860311.1:p.Ser22278Arg
XM_017004823.1:c.48448A>C (TTN)	XP_016860312.1:p.Ser16150Arg
XM_024453094.1:c.69943A>C (TTN)	XP_024308862.1:p.Ser23315Arg
XM_024453095.1:c.69940A>C (TTN)	XP_024308863.1:p.Ser23314Arg
XM_024453096.1:c.69373A>C (TTN)	XP_024308864.1:p.Ser23125Arg
XM_024453097.1:c.66715A>C (TTN)	XP_024308865.1:p.Ser22239Arg
XM_024453098.1:c.66634A>C (TTN)	XP_024308866.1:p.Ser22212Arg
XM_024453099.1:c.48397A>C (TTN)	XP_024308867.1:p.Ser16133Arg
XM_024453100.1:c.38251A>C (TTN)	XP_024308868.1:p.Ser12751Arg