Canonical Allele Identifier: CA430245070

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1667981
• ClinVar RCV Id: RCV002191515
• dbSNP Id: rs2154150710
• MyVariant Identifiers: chr2:g.179416415A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551688A>C , CM000664.2:g.178551688A>C	GRCh38
NC_000002.11:g.179416415A>C , CM000664.1:g.179416415A>C	GRCh37
NC_000002.10:g.179124661A>C	NCBI36
NG_011618.3:g.284115T>G , LRG_391:g.284115T>G
NG_051363.1:g.33862A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.83508T>G (TTN)	ENSP00000343764.6:p.Ser27836=
ENST00000342175.11:c.64593T>G (TTN)	ENSP00000340554.6:p.Ser21531=
ENST00000359218.10:c.64392T>G (TTN)	ENSP00000352154.5:p.Ser21464=
ENST00000342175.10:c.64593T>G (TTN)	ENSP00000340554.6:p.Ser21531=
ENST00000342992.10:c.83508T>G (TTN)	ENSP00000343764.6:p.Ser27836=
ENST00000359218.9:c.64392T>G (TTN)	ENSP00000352154.5:p.Ser21464=
ENST00000460472.6:c.64017T>G (TTN)	ENSP00000434586.1:p.Ser21339=
ENST00000589042.5:c.91212T>G (TTN) MANE Select	ENSP00000467141.1:p.Ser30404=
ENST00000591111.5:c.86289T>G (TTN)	ENSP00000465570.1:p.Ser28763=
ENST00000615779.4:c.86289T>G (TTN)	ENSP00000483597.1:p.Ser28763=
NM_001256850.1:c.86289T>G (TTN)	NP_001243779.1:p.Ser28763=
NM_001267550.2:c.91212T>G (TTN) MANE Select	NP_001254479.2:p.Ser30404=
NM_003319.4:c.64017T>G (TTN)	NP_003310.4:p.Ser21339=
NM_133378.4:c.83508T>G (TTN)	NP_596869.4:p.Ser27836=
NM_133432.3:c.64392T>G (TTN)	NP_597676.3:p.Ser21464=
NM_133437.4:c.64593T>G (TTN)	NP_597681.4:p.Ser21531=
NR_038271.1:n.447-19612A>C (TTN-AS1)
NR_038272.1:n.2043+9327A>C (TTN-AS1)
XM_011511729.1:c.90309T>G (TTN)	XP_011510031.1:p.Ser30103=
XM_011511730.1:c.64203T>G (TTN)	XP_011510032.1:p.Ser21401=
XM_011511731.1:c.64062T>G (TTN)	XP_011510033.1:p.Ser21354=
XM_017004819.1:c.90105T>G (TTN)	XP_016860308.1:p.Ser30035=
XM_017004820.1:c.85503T>G (TTN)	XP_016860309.1:p.Ser28501=
XM_017004821.1:c.85500T>G (TTN)	XP_016860310.1:p.Ser28500=
XM_017004822.1:c.82542T>G (TTN)	XP_016860311.1:p.Ser27514=
XM_017004823.1:c.64158T>G (TTN)	XP_016860312.1:p.Ser21386=
XM_024453094.1:c.85653T>G (TTN)	XP_024308862.1:p.Ser28551=
XM_024453095.1:c.85650T>G (TTN)	XP_024308863.1:p.Ser28550=
XM_024453096.1:c.85083T>G (TTN)	XP_024308864.1:p.Ser28361=
XM_024453097.1:c.82425T>G (TTN)	XP_024308865.1:p.Ser27475=
XM_024453098.1:c.82344T>G (TTN)	XP_024308866.1:p.Ser27448=
XM_024453099.1:c.64107T>G (TTN)	XP_024308867.1:p.Ser21369=
XM_024453100.1:c.53961T>G (TTN)	XP_024308868.1:p.Ser17987=