Canonical Allele Identifier: CA349672192

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2046828341
• gnomAD v3: 2-178578003-C-A
• gnomAD v4: 2-178578003-C-A
• MyVariant Identifiers: chr2:g.179442730C>A (hg19) ; chr2:g.178578003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578003C>A , CM000664.2:g.178578003C>A	GRCh38
NC_000002.11:g.179442730C>A , CM000664.1:g.179442730C>A	GRCh37
NC_000002.10:g.179150976C>A	NCBI36
NG_011618.3:g.257800G>T , LRG_391:g.257800G>T
NG_051363.1:g.60177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60808G>T (TTN)	ENSP00000343764.6:p.Ala20270Ser
ENST00000342175.11:c.41893G>T (TTN)	ENSP00000340554.6:p.Ala13965Ser
ENST00000359218.10:c.41692G>T (TTN)	ENSP00000352154.5:p.Ala13898Ser
ENST00000342175.10:c.41893G>T (TTN)	ENSP00000340554.6:p.Ala13965Ser
ENST00000342992.10:c.60808G>T (TTN)	ENSP00000343764.6:p.Ala20270Ser
ENST00000359218.9:c.41692G>T (TTN)	ENSP00000352154.5:p.Ala13898Ser
ENST00000460472.6:c.41317G>T (TTN)	ENSP00000434586.1:p.Ala13773Ser
ENST00000589042.5:c.68512G>T (TTN) MANE Select	ENSP00000467141.1:p.Ala22838Ser
ENST00000591111.5:c.63589G>T (TTN)	ENSP00000465570.1:p.Ala21197Ser
ENST00000615779.4:c.63589G>T (TTN)	ENSP00000483597.1:p.Ala21197Ser
NM_001256850.1:c.63589G>T (TTN)	NP_001243779.1:p.Ala21197Ser
NM_001267550.2:c.68512G>T (TTN) MANE Select	NP_001254479.2:p.Ala22838Ser
NM_003319.4:c.41317G>T (TTN)	NP_003310.4:p.Ala13773Ser
NM_133378.4:c.60808G>T (TTN)	NP_596869.4:p.Ala20270Ser
NM_133432.3:c.41692G>T (TTN)	NP_597676.3:p.Ala13898Ser
NM_133437.4:c.41893G>T (TTN)	NP_597681.4:p.Ala13965Ser
NR_038271.1:n.596+6554C>A (TTN-AS1)
NR_038272.1:n.2044-4569C>A (TTN-AS1)
XM_011511729.1:c.67609G>T (TTN)	XP_011510031.1:p.Ala22537Ser
XM_011511730.1:c.41503G>T (TTN)	XP_011510032.1:p.Ala13835Ser
XM_011511731.1:c.41362G>T (TTN)	XP_011510033.1:p.Ala13788Ser
XM_017004819.1:c.67405G>T (TTN)	XP_016860308.1:p.Ala22469Ser
XM_017004820.1:c.62803G>T (TTN)	XP_016860309.1:p.Ala20935Ser
XM_017004821.1:c.62800G>T (TTN)	XP_016860310.1:p.Ala20934Ser
XM_017004822.1:c.59842G>T (TTN)	XP_016860311.1:p.Ala19948Ser
XM_017004823.1:c.41458G>T (TTN)	XP_016860312.1:p.Ala13820Ser
XM_024453094.1:c.62953G>T (TTN)	XP_024308862.1:p.Ala20985Ser
XM_024453095.1:c.62950G>T (TTN)	XP_024308863.1:p.Ala20984Ser
XM_024453096.1:c.62383G>T (TTN)	XP_024308864.1:p.Ala20795Ser
XM_024453097.1:c.59725G>T (TTN)	XP_024308865.1:p.Ala19909Ser
XM_024453098.1:c.59644G>T (TTN)	XP_024308866.1:p.Ala19882Ser
XM_024453099.1:c.41407G>T (TTN)	XP_024308867.1:p.Ala13803Ser
XM_024453100.1:c.31261G>T (TTN)	XP_024308868.1:p.Ala10421Ser