Canonical Allele Identifier: CA349601385

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178567401-T-C
• MyVariant Identifiers: chr2:g.179432128T>C (hg19) ; chr2:g.178567401T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567401T>C , CM000664.2:g.178567401T>C	GRCh38
NC_000002.11:g.179432128T>C , CM000664.1:g.179432128T>C	GRCh37
NC_000002.10:g.179140374T>C	NCBI36
NG_011618.3:g.268402A>G , LRG_391:g.268402A>G
NG_051363.1:g.49575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.71027A>G (TTN)	ENSP00000343764.6:p.Asn23676Ser
ENST00000342175.11:c.52112A>G (TTN)	ENSP00000340554.6:p.Asn17371Ser
ENST00000359218.10:c.51911A>G (TTN)	ENSP00000352154.5:p.Asn17304Ser
ENST00000342175.10:c.52112A>G (TTN)	ENSP00000340554.6:p.Asn17371Ser
ENST00000342992.10:c.71027A>G (TTN)	ENSP00000343764.6:p.Asn23676Ser
ENST00000359218.9:c.51911A>G (TTN)	ENSP00000352154.5:p.Asn17304Ser
ENST00000460472.6:c.51536A>G (TTN)	ENSP00000434586.1:p.Asn17179Ser
ENST00000589042.5:c.78731A>G (TTN) MANE Select	ENSP00000467141.1:p.Asn26244Ser
ENST00000591111.5:c.73808A>G (TTN)	ENSP00000465570.1:p.Asn24603Ser
ENST00000615779.4:c.73808A>G (TTN)	ENSP00000483597.1:p.Asn24603Ser
NM_001256850.1:c.73808A>G (TTN)	NP_001243779.1:p.Asn24603Ser
NM_001267550.2:c.78731A>G (TTN) MANE Select	NP_001254479.2:p.Asn26244Ser
NM_003319.4:c.51536A>G (TTN)	NP_003310.4:p.Asn17179Ser
NM_133378.4:c.71027A>G (TTN)	NP_596869.4:p.Asn23676Ser
NM_133432.3:c.51911A>G (TTN)	NP_597676.3:p.Asn17304Ser
NM_133437.4:c.52112A>G (TTN)	NP_597681.4:p.Asn17371Ser
NR_038271.1:n.447-3899T>C (TTN-AS1)
NR_038272.1:n.2044-15171T>C (TTN-AS1)
XM_011511729.1:c.77828A>G (TTN)	XP_011510031.1:p.Asn25943Ser
XM_011511730.1:c.51722A>G (TTN)	XP_011510032.1:p.Asn17241Ser
XM_011511731.1:c.51581A>G (TTN)	XP_011510033.1:p.Asn17194Ser
XM_017004819.1:c.77624A>G (TTN)	XP_016860308.1:p.Asn25875Ser
XM_017004820.1:c.73022A>G (TTN)	XP_016860309.1:p.Asn24341Ser
XM_017004821.1:c.73019A>G (TTN)	XP_016860310.1:p.Asn24340Ser
XM_017004822.1:c.70061A>G (TTN)	XP_016860311.1:p.Asn23354Ser
XM_017004823.1:c.51677A>G (TTN)	XP_016860312.1:p.Asn17226Ser
XM_024453094.1:c.73172A>G (TTN)	XP_024308862.1:p.Asn24391Ser
XM_024453095.1:c.73169A>G (TTN)	XP_024308863.1:p.Asn24390Ser
XM_024453096.1:c.72602A>G (TTN)	XP_024308864.1:p.Asn24201Ser
XM_024453097.1:c.69944A>G (TTN)	XP_024308865.1:p.Asn23315Ser
XM_024453098.1:c.69863A>G (TTN)	XP_024308866.1:p.Asn23288Ser
XM_024453099.1:c.51626A>G (TTN)	XP_024308867.1:p.Asn17209Ser
XM_024453100.1:c.41480A>G (TTN)	XP_024308868.1:p.Asn13827Ser