Canonical Allele Identifier: CA430254772

Linked Data

MyVariant Identifiers: chr2:g.179435178T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570451T>C , CM000664.2:g.178570451T>C GRCh38
NC_000002.11:g.179435178T>C , CM000664.1:g.179435178T>C GRCh37
NC_000002.10:g.179143424T>C NCBI36
NG_011618.3:g.265352A>G , LRG_391:g.265352A>G
NG_051363.1:g.52625T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67977A>G (TTN) ENSP00000343764.6:p.Lys22659=
ENST00000342175.11:c.49062A>G (TTN) ENSP00000340554.6:p.Lys16354=
ENST00000359218.10:c.48861A>G (TTN) ENSP00000352154.5:p.Lys16287=
ENST00000342175.10:c.49062A>G (TTN) ENSP00000340554.6:p.Lys16354=
ENST00000342992.10:c.67977A>G (TTN) ENSP00000343764.6:p.Lys22659=
ENST00000359218.9:c.48861A>G (TTN) ENSP00000352154.5:p.Lys16287=
ENST00000460472.6:c.48486A>G (TTN) ENSP00000434586.1:p.Lys16162=
ENST00000589042.5:c.75681A>G (TTN) MANE Select ENSP00000467141.1:p.Lys25227=
ENST00000591111.5:c.70758A>G (TTN) ENSP00000465570.1:p.Lys23586=
ENST00000615779.4:c.70758A>G (TTN) ENSP00000483597.1:p.Lys23586=
NM_001256850.1:c.70758A>G (TTN) NP_001243779.1:p.Lys23586=
NM_001267550.2:c.75681A>G (TTN) MANE Select NP_001254479.2:p.Lys25227=
NM_003319.4:c.48486A>G (TTN) NP_003310.4:p.Lys16162=
NM_133378.4:c.67977A>G (TTN) NP_596869.4:p.Lys22659=
NM_133432.3:c.48861A>G (TTN) NP_597676.3:p.Lys16287=
NM_133437.4:c.49062A>G (TTN) NP_597681.4:p.Lys16354=
NR_038271.1:n.447-849T>C (TTN-AS1)
NR_038272.1:n.2044-12121T>C (TTN-AS1)
XM_011511729.1:c.74778A>G (TTN) XP_011510031.1:p.Lys24926=
XM_011511730.1:c.48672A>G (TTN) XP_011510032.1:p.Lys16224=
XM_011511731.1:c.48531A>G (TTN) XP_011510033.1:p.Lys16177=
XM_017004819.1:c.74574A>G (TTN) XP_016860308.1:p.Lys24858=
XM_017004820.1:c.69972A>G (TTN) XP_016860309.1:p.Lys23324=
XM_017004821.1:c.69969A>G (TTN) XP_016860310.1:p.Lys23323=
XM_017004822.1:c.67011A>G (TTN) XP_016860311.1:p.Lys22337=
XM_017004823.1:c.48627A>G (TTN) XP_016860312.1:p.Lys16209=
XM_024453094.1:c.70122A>G (TTN) XP_024308862.1:p.Lys23374=
XM_024453095.1:c.70119A>G (TTN) XP_024308863.1:p.Lys23373=
XM_024453096.1:c.69552A>G (TTN) XP_024308864.1:p.Lys23184=
XM_024453097.1:c.66894A>G (TTN) XP_024308865.1:p.Lys22298=
XM_024453098.1:c.66813A>G (TTN) XP_024308866.1:p.Lys22271=
XM_024453099.1:c.48576A>G (TTN) XP_024308867.1:p.Lys16192=
XM_024453100.1:c.38430A>G (TTN) XP_024308868.1:p.Lys12810=