Canonical Allele Identifier: CA430254897

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178570544-A-G
• MyVariant Identifiers: chr2:g.179435271A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570544A>G , CM000664.2:g.178570544A>G	GRCh38
NC_000002.11:g.179435271A>G , CM000664.1:g.179435271A>G	GRCh37
NC_000002.10:g.179143517A>G	NCBI36
NG_011618.3:g.265259T>C , LRG_391:g.265259T>C
NG_051363.1:g.52718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67884T>C (TTN)	ENSP00000343764.6:p.Thr22628=
ENST00000342175.11:c.48969T>C (TTN)	ENSP00000340554.6:p.Thr16323=
ENST00000359218.10:c.48768T>C (TTN)	ENSP00000352154.5:p.Thr16256=
ENST00000342175.10:c.48969T>C (TTN)	ENSP00000340554.6:p.Thr16323=
ENST00000342992.10:c.67884T>C (TTN)	ENSP00000343764.6:p.Thr22628=
ENST00000359218.9:c.48768T>C (TTN)	ENSP00000352154.5:p.Thr16256=
ENST00000460472.6:c.48393T>C (TTN)	ENSP00000434586.1:p.Thr16131=
ENST00000589042.5:c.75588T>C (TTN) MANE Select	ENSP00000467141.1:p.Thr25196=
ENST00000591111.5:c.70665T>C (TTN)	ENSP00000465570.1:p.Thr23555=
ENST00000615779.4:c.70665T>C (TTN)	ENSP00000483597.1:p.Thr23555=
NM_001256850.1:c.70665T>C (TTN)	NP_001243779.1:p.Thr23555=
NM_001267550.2:c.75588T>C (TTN) MANE Select	NP_001254479.2:p.Thr25196=
NM_003319.4:c.48393T>C (TTN)	NP_003310.4:p.Thr16131=
NM_133378.4:c.67884T>C (TTN)	NP_596869.4:p.Thr22628=
NM_133432.3:c.48768T>C (TTN)	NP_597676.3:p.Thr16256=
NM_133437.4:c.48969T>C (TTN)	NP_597681.4:p.Thr16323=
NR_038271.1:n.447-756A>G (TTN-AS1)
NR_038272.1:n.2044-12028A>G (TTN-AS1)
XM_011511729.1:c.74685T>C (TTN)	XP_011510031.1:p.Thr24895=
XM_011511730.1:c.48579T>C (TTN)	XP_011510032.1:p.Thr16193=
XM_011511731.1:c.48438T>C (TTN)	XP_011510033.1:p.Thr16146=
XM_017004819.1:c.74481T>C (TTN)	XP_016860308.1:p.Thr24827=
XM_017004820.1:c.69879T>C (TTN)	XP_016860309.1:p.Thr23293=
XM_017004821.1:c.69876T>C (TTN)	XP_016860310.1:p.Thr23292=
XM_017004822.1:c.66918T>C (TTN)	XP_016860311.1:p.Thr22306=
XM_017004823.1:c.48534T>C (TTN)	XP_016860312.1:p.Thr16178=
XM_024453094.1:c.70029T>C (TTN)	XP_024308862.1:p.Thr23343=
XM_024453095.1:c.70026T>C (TTN)	XP_024308863.1:p.Thr23342=
XM_024453096.1:c.69459T>C (TTN)	XP_024308864.1:p.Thr23153=
XM_024453097.1:c.66801T>C (TTN)	XP_024308865.1:p.Thr22267=
XM_024453098.1:c.66720T>C (TTN)	XP_024308866.1:p.Thr22240=
XM_024453099.1:c.48483T>C (TTN)	XP_024308867.1:p.Thr16161=
XM_024453100.1:c.38337T>C (TTN)	XP_024308868.1:p.Thr12779=