Canonical Allele Identifier: CA430091506

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1585458
• ClinVar RCV Id: RCV002095421
• dbSNP Id: rs2154129783
• MyVariant Identifiers: chr2:g.179391790A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527063A>G , CM000664.2:g.178527063A>G	GRCh38
NC_000002.11:g.179391790A>G , CM000664.1:g.179391790A>G	GRCh37
NC_000002.10:g.179100036A>G	NCBI36
NG_011618.3:g.308740T>C , LRG_391:g.308740T>C
NG_051363.1:g.9237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100221T>C (TTN)	ENSP00000343764.6:p.Asn33407=
ENST00000342175.11:c.81306T>C (TTN)	ENSP00000340554.6:p.Asn27102=
ENST00000359218.10:c.81105T>C (TTN)	ENSP00000352154.5:p.Asn27035=
ENST00000342175.10:c.81306T>C (TTN)	ENSP00000340554.6:p.Asn27102=
ENST00000342992.10:c.100221T>C (TTN)	ENSP00000343764.6:p.Asn33407=
ENST00000359218.9:c.81105T>C (TTN)	ENSP00000352154.5:p.Asn27035=
ENST00000460472.6:c.80730T>C (TTN)	ENSP00000434586.1:p.Asn26910=
ENST00000589042.5:c.107925T>C (TTN) MANE Select	ENSP00000467141.1:p.Asn35975=
ENST00000591111.5:c.103002T>C (TTN)	ENSP00000465570.1:p.Asn34334=
ENST00000615779.4:c.103002T>C (TTN)	ENSP00000483597.1:p.Asn34334=
NM_001256850.1:c.103002T>C (TTN)	NP_001243779.1:p.Asn34334=
NM_001267550.2:c.107925T>C (TTN) MANE Select	NP_001254479.2:p.Asn35975=
NM_003319.4:c.80730T>C (TTN)	NP_003310.4:p.Asn26910=
NM_133378.4:c.100221T>C (TTN)	NP_596869.4:p.Asn33407=
NM_133432.3:c.81105T>C (TTN)	NP_597676.3:p.Asn27035=
NM_133437.4:c.81306T>C (TTN)	NP_597681.4:p.Asn27102=
NR_038271.1:n.446+3427A>G (TTN-AS1)
NR_038272.1:n.219+3427A>G (TTN-AS1)
XM_011511729.1:c.107022T>C (TTN)	XP_011510031.1:p.Asn35674=
XM_011511730.1:c.80916T>C (TTN)	XP_011510032.1:p.Asn26972=
XM_011511731.1:c.80775T>C (TTN)	XP_011510033.1:p.Asn26925=
XM_017004819.1:c.106818T>C (TTN)	XP_016860308.1:p.Asn35606=
XM_017004820.1:c.102216T>C (TTN)	XP_016860309.1:p.Asn34072=
XM_017004821.1:c.102213T>C (TTN)	XP_016860310.1:p.Asn34071=
XM_017004822.1:c.99255T>C (TTN)	XP_016860311.1:p.Asn33085=
XM_017004823.1:c.80871T>C (TTN)	XP_016860312.1:p.Asn26957=
XM_024453094.1:c.102366T>C (TTN)	XP_024308862.1:p.Asn34122=
XM_024453095.1:c.102363T>C (TTN)	XP_024308863.1:p.Asn34121=
XM_024453096.1:c.101796T>C (TTN)	XP_024308864.1:p.Asn33932=
XM_024453097.1:c.99138T>C (TTN)	XP_024308865.1:p.Asn33046=
XM_024453098.1:c.99057T>C (TTN)	XP_024308866.1:p.Asn33019=
XM_024453099.1:c.80820T>C (TTN)	XP_024308867.1:p.Asn26940=
XM_024453100.1:c.70674T>C (TTN)	XP_024308868.1:p.Asn23558=