Canonical Allele Identifier: CA1984852

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs772666403
• ExAC: 2:179391739 T / C
• gnomAD v2: 2-179391739-T-C
• gnomAD v4: 2-178527012-T-C
• MyVariant Identifiers: chr2:g.179391739T>C (hg19) ; chr2:g.178527012T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527012T>C , CM000664.2:g.178527012T>C	GRCh38
NC_000002.11:g.179391739T>C , CM000664.1:g.179391739T>C	GRCh37
NC_000002.10:g.179099985T>C	NCBI36
NG_011618.3:g.308791A>G , LRG_391:g.308791A>G
NG_051363.1:g.9186T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.100272A>G (TTN)	ENSP00000343764.6:p.Ter33424=
ENST00000342175.11:c.81357A>G (TTN)	ENSP00000340554.6:p.Ter27119=
ENST00000359218.10:c.81156A>G (TTN)	ENSP00000352154.5:p.Ter27052=
ENST00000342175.10:c.81357A>G (TTN)	ENSP00000340554.6:p.Ter27119=
ENST00000342992.10:c.100272A>G (TTN)	ENSP00000343764.6:p.Ter33424=
ENST00000359218.9:c.81156A>G (TTN)	ENSP00000352154.5:p.Ter27052=
ENST00000460472.6:c.80781A>G (TTN)	ENSP00000434586.1:p.Ter26927=
ENST00000589042.5:c.107976A>G (TTN) MANE Select	ENSP00000467141.1:p.Ter35992=
ENST00000591111.5:c.103053A>G (TTN)	ENSP00000465570.1:p.Ter34351=
ENST00000615779.4:c.103053A>G (TTN)	ENSP00000483597.1:p.Ter34351=
NM_001256850.1:c.103053A>G (TTN)	NP_001243779.1:p.Ter34351=
NM_001267550.2:c.107976A>G (TTN) MANE Select	NP_001254479.2:p.Ter35992=
NM_003319.4:c.80781A>G (TTN)	NP_003310.4:p.Ter26927=
NM_133378.4:c.100272A>G (TTN)	NP_596869.4:p.Ter33424=
NM_133432.3:c.81156A>G (TTN)	NP_597676.3:p.Ter27052=
NM_133437.4:c.81357A>G (TTN)	NP_597681.4:p.Ter27119=
NR_038271.1:n.446+3376T>C (TTN-AS1)
NR_038272.1:n.219+3376T>C (TTN-AS1)
XM_011511729.1:c.107073A>G (TTN)	XP_011510031.1:p.Ter35691=
XM_011511730.1:c.80967A>G (TTN)	XP_011510032.1:p.Ter26989=
XM_011511731.1:c.80826A>G (TTN)	XP_011510033.1:p.Ter26942=
XM_017004819.1:c.106869A>G (TTN)	XP_016860308.1:p.Ter35623=
XM_017004820.1:c.102267A>G (TTN)	XP_016860309.1:p.Ter34089=
XM_017004821.1:c.102264A>G (TTN)	XP_016860310.1:p.Ter34088=
XM_017004822.1:c.99306A>G (TTN)	XP_016860311.1:p.Ter33102=
XM_017004823.1:c.80922A>G (TTN)	XP_016860312.1:p.Ter26974=
XM_024453094.1:c.102417A>G (TTN)	XP_024308862.1:p.Ter34139=
XM_024453095.1:c.102414A>G (TTN)	XP_024308863.1:p.Ter34138=
XM_024453096.1:c.101847A>G (TTN)	XP_024308864.1:p.Ter33949=
XM_024453097.1:c.99189A>G (TTN)	XP_024308865.1:p.Ter33063=
XM_024453098.1:c.99108A>G (TTN)	XP_024308866.1:p.Ter33036=
XM_024453099.1:c.80871A>G (TTN)	XP_024308867.1:p.Ter26957=
XM_024453100.1:c.70725A>G (TTN)	XP_024308868.1:p.Ter23575=