Canonical Allele Identifier: CA16603993

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 393212
• ClinVar RCV Id: RCV000436042
• dbSNP Id: rs1057524838
• MyVariant Identifiers: chr2:g.179426818G>C (hg19) ; chr2:g.178562091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562091G>C , CM000664.2:g.178562091G>C	GRCh38
NC_000002.11:g.179426818G>C , CM000664.1:g.179426818G>C	GRCh37
NC_000002.10:g.179135064G>C	NCBI36
NG_011618.3:g.273712C>G , LRG_391:g.273712C>G
NG_051363.1:g.44265G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76337C>G (TTN)	ENSP00000343764.6:p.Ser25446Ter
ENST00000342175.11:c.57422C>G (TTN)	ENSP00000340554.6:p.Ser19141Ter
ENST00000359218.10:c.57221C>G (TTN)	ENSP00000352154.5:p.Ser19074Ter
ENST00000342175.10:c.57422C>G (TTN)	ENSP00000340554.6:p.Ser19141Ter
ENST00000342992.10:c.76337C>G (TTN)	ENSP00000343764.6:p.Ser25446Ter
ENST00000359218.9:c.57221C>G (TTN)	ENSP00000352154.5:p.Ser19074Ter
ENST00000460472.6:c.56846C>G (TTN)	ENSP00000434586.1:p.Ser18949Ter
ENST00000589042.5:c.84041C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser28014Ter
ENST00000591111.5:c.79118C>G (TTN)	ENSP00000465570.1:p.Ser26373Ter
ENST00000615779.4:c.79118C>G (TTN)	ENSP00000483597.1:p.Ser26373Ter
NM_001256850.1:c.79118C>G (TTN)	NP_001243779.1:p.Ser26373Ter
NM_001267550.2:c.84041C>G (TTN) MANE Select	NP_001254479.2:p.Ser28014Ter
NM_003319.4:c.56846C>G (TTN)	NP_003310.4:p.Ser18949Ter
NM_133378.4:c.76337C>G (TTN)	NP_596869.4:p.Ser25446Ter
NM_133432.3:c.57221C>G (TTN)	NP_597676.3:p.Ser19074Ter
NM_133437.4:c.57422C>G (TTN)	NP_597681.4:p.Ser19141Ter
NR_038271.1:n.447-9209G>C (TTN-AS1)
NR_038272.1:n.2043+19730G>C (TTN-AS1)
XM_011511729.1:c.83138C>G (TTN)	XP_011510031.1:p.Ser27713Ter
XM_011511730.1:c.57032C>G (TTN)	XP_011510032.1:p.Ser19011Ter
XM_011511731.1:c.56891C>G (TTN)	XP_011510033.1:p.Ser18964Ter
XM_017004819.1:c.82934C>G (TTN)	XP_016860308.1:p.Ser27645Ter
XM_017004820.1:c.78332C>G (TTN)	XP_016860309.1:p.Ser26111Ter
XM_017004821.1:c.78329C>G (TTN)	XP_016860310.1:p.Ser26110Ter
XM_017004822.1:c.75371C>G (TTN)	XP_016860311.1:p.Ser25124Ter
XM_017004823.1:c.56987C>G (TTN)	XP_016860312.1:p.Ser18996Ter
XM_024453094.1:c.78482C>G (TTN)	XP_024308862.1:p.Ser26161Ter
XM_024453095.1:c.78479C>G (TTN)	XP_024308863.1:p.Ser26160Ter
XM_024453096.1:c.77912C>G (TTN)	XP_024308864.1:p.Ser25971Ter
XM_024453097.1:c.75254C>G (TTN)	XP_024308865.1:p.Ser25085Ter
XM_024453098.1:c.75173C>G (TTN)	XP_024308866.1:p.Ser25058Ter
XM_024453099.1:c.56936C>G (TTN)	XP_024308867.1:p.Ser18979Ter
XM_024453100.1:c.46790C>G (TTN)	XP_024308868.1:p.Ser15597Ter