Canonical Allele Identifier: CA349435478

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2048496423
• MyVariant Identifiers: chr2:g.179449211G>C (hg19) ; chr2:g.178584484G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584484G>C , CM000664.2:g.178584484G>C	GRCh38
NC_000002.11:g.179449211G>C , CM000664.1:g.179449211G>C	GRCh37
NC_000002.10:g.179157457G>C	NCBI36
NG_011618.3:g.251319C>G , LRG_391:g.251319C>G
NG_051363.1:g.66658G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57363C>G (TTN)	ENSP00000343764.6:p.Ser19121Arg
ENST00000342175.11:c.38448C>G (TTN)	ENSP00000340554.6:p.Ser12816Arg
ENST00000359218.10:c.38247C>G (TTN)	ENSP00000352154.5:p.Ser12749Arg
ENST00000342175.10:c.38448C>G (TTN)	ENSP00000340554.6:p.Ser12816Arg
ENST00000342992.10:c.57363C>G (TTN)	ENSP00000343764.6:p.Ser19121Arg
ENST00000359218.9:c.38247C>G (TTN)	ENSP00000352154.5:p.Ser12749Arg
ENST00000460472.6:c.37872C>G (TTN)	ENSP00000434586.1:p.Ser12624Arg
ENST00000589042.5:c.65067C>G (TTN) MANE Select	ENSP00000467141.1:p.Ser21689Arg
ENST00000591111.5:c.60144C>G (TTN)	ENSP00000465570.1:p.Ser20048Arg
ENST00000615779.4:c.60144C>G (TTN)	ENSP00000483597.1:p.Ser20048Arg
NM_001256850.1:c.60144C>G (TTN)	NP_001243779.1:p.Ser20048Arg
NM_001267550.2:c.65067C>G (TTN) MANE Select	NP_001254479.2:p.Ser21689Arg
NM_003319.4:c.37872C>G (TTN)	NP_003310.4:p.Ser12624Arg
NM_133378.4:c.57363C>G (TTN)	NP_596869.4:p.Ser19121Arg
NM_133432.3:c.38247C>G (TTN)	NP_597676.3:p.Ser12749Arg
NM_133437.4:c.38448C>G (TTN)	NP_597681.4:p.Ser12816Arg
NR_038271.1:n.596+13035G>C (TTN-AS1)
NR_038272.1:n.2768-89G>C (TTN-AS1)
XM_011511729.1:c.64164C>G (TTN)	XP_011510031.1:p.Ser21388Arg
XM_011511730.1:c.38058C>G (TTN)	XP_011510032.1:p.Ser12686Arg
XM_011511731.1:c.37917C>G (TTN)	XP_011510033.1:p.Ser12639Arg
XM_017004819.1:c.63960C>G (TTN)	XP_016860308.1:p.Ser21320Arg
XM_017004820.1:c.59358C>G (TTN)	XP_016860309.1:p.Ser19786Arg
XM_017004821.1:c.59355C>G (TTN)	XP_016860310.1:p.Ser19785Arg
XM_017004822.1:c.56397C>G (TTN)	XP_016860311.1:p.Ser18799Arg
XM_017004823.1:c.38013C>G (TTN)	XP_016860312.1:p.Ser12671Arg
XM_024453094.1:c.59508C>G (TTN)	XP_024308862.1:p.Ser19836Arg
XM_024453095.1:c.59505C>G (TTN)	XP_024308863.1:p.Ser19835Arg
XM_024453096.1:c.58938C>G (TTN)	XP_024308864.1:p.Ser19646Arg
XM_024453097.1:c.56280C>G (TTN)	XP_024308865.1:p.Ser18760Arg
XM_024453098.1:c.56199C>G (TTN)	XP_024308866.1:p.Ser18733Arg
XM_024453099.1:c.37962C>G (TTN)	XP_024308867.1:p.Ser12654Arg
XM_024453100.1:c.27816C>G (TTN)	XP_024308868.1:p.Ser9272Arg