Canonical Allele Identifier: CA430242439

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178546733-A-G
• MyVariant Identifiers: chr2:g.179411460A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546733A>G , CM000664.2:g.178546733A>G	GRCh38
NC_000002.11:g.179411460A>G , CM000664.1:g.179411460A>G	GRCh37
NC_000002.10:g.179119706A>G	NCBI36
NG_011618.3:g.289070T>C , LRG_391:g.289070T>C
NG_051363.1:g.28907A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86991T>C (TTN)	ENSP00000343764.6:p.Ser28997=
ENST00000342175.11:c.68076T>C (TTN)	ENSP00000340554.6:p.Ser22692=
ENST00000359218.10:c.67875T>C (TTN)	ENSP00000352154.5:p.Ser22625=
ENST00000342175.10:c.68076T>C (TTN)	ENSP00000340554.6:p.Ser22692=
ENST00000342992.10:c.86991T>C (TTN)	ENSP00000343764.6:p.Ser28997=
ENST00000359218.9:c.67875T>C (TTN)	ENSP00000352154.5:p.Ser22625=
ENST00000460472.6:c.67500T>C (TTN)	ENSP00000434586.1:p.Ser22500=
ENST00000589042.5:c.94695T>C (TTN) MANE Select	ENSP00000467141.1:p.Ser31565=
ENST00000591111.5:c.89772T>C (TTN)	ENSP00000465570.1:p.Ser29924=
ENST00000615779.4:c.89772T>C (TTN)	ENSP00000483597.1:p.Ser29924=
NM_001256850.1:c.89772T>C (TTN)	NP_001243779.1:p.Ser29924=
NM_001267550.2:c.94695T>C (TTN) MANE Select	NP_001254479.2:p.Ser31565=
NM_003319.4:c.67500T>C (TTN)	NP_003310.4:p.Ser22500=
NM_133378.4:c.86991T>C (TTN)	NP_596869.4:p.Ser28997=
NM_133432.3:c.67875T>C (TTN)	NP_597676.3:p.Ser22625=
NM_133437.4:c.68076T>C (TTN)	NP_597681.4:p.Ser22692=
NR_038271.1:n.446+23097A>G (TTN-AS1)
NR_038272.1:n.2043+4372A>G (TTN-AS1)
XM_011511729.1:c.93792T>C (TTN)	XP_011510031.1:p.Ser31264=
XM_011511730.1:c.67686T>C (TTN)	XP_011510032.1:p.Ser22562=
XM_011511731.1:c.67545T>C (TTN)	XP_011510033.1:p.Ser22515=
XM_017004819.1:c.93588T>C (TTN)	XP_016860308.1:p.Ser31196=
XM_017004820.1:c.88986T>C (TTN)	XP_016860309.1:p.Ser29662=
XM_017004821.1:c.88983T>C (TTN)	XP_016860310.1:p.Ser29661=
XM_017004822.1:c.86025T>C (TTN)	XP_016860311.1:p.Ser28675=
XM_017004823.1:c.67641T>C (TTN)	XP_016860312.1:p.Ser22547=
XM_024453094.1:c.89136T>C (TTN)	XP_024308862.1:p.Ser29712=
XM_024453095.1:c.89133T>C (TTN)	XP_024308863.1:p.Ser29711=
XM_024453096.1:c.88566T>C (TTN)	XP_024308864.1:p.Ser29522=
XM_024453097.1:c.85908T>C (TTN)	XP_024308865.1:p.Ser28636=
XM_024453098.1:c.85827T>C (TTN)	XP_024308866.1:p.Ser28609=
XM_024453099.1:c.67590T>C (TTN)	XP_024308867.1:p.Ser22530=
XM_024453100.1:c.57444T>C (TTN)	XP_024308868.1:p.Ser19148=