Canonical Allele Identifier: CA430235660

Linked Data

MyVariant Identifiers: chr2:g.179395370C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530643C>T , CM000664.2:g.178530643C>T GRCh38
NC_000002.11:g.179395370C>T , CM000664.1:g.179395370C>T GRCh37
NC_000002.10:g.179103616C>T NCBI36
NG_011618.3:g.305160G>A , LRG_391:g.305160G>A
NG_051363.1:g.12817C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98268G>A (TTN) ENSP00000343764.6:p.Lys32756=
ENST00000342175.11:c.79353G>A (TTN) ENSP00000340554.6:p.Lys26451=
ENST00000359218.10:c.79152G>A (TTN) ENSP00000352154.5:p.Lys26384=
ENST00000342175.10:c.79353G>A (TTN) ENSP00000340554.6:p.Lys26451=
ENST00000342992.10:c.98268G>A (TTN) ENSP00000343764.6:p.Lys32756=
ENST00000359218.9:c.79152G>A (TTN) ENSP00000352154.5:p.Lys26384=
ENST00000460472.6:c.78777G>A (TTN) ENSP00000434586.1:p.Lys26259=
ENST00000589042.5:c.105972G>A (TTN) MANE Select ENSP00000467141.1:p.Lys35324=
ENST00000591111.5:c.101049G>A (TTN) ENSP00000465570.1:p.Lys33683=
ENST00000615779.4:c.101049G>A (TTN) ENSP00000483597.1:p.Lys33683=
NM_001256850.1:c.101049G>A (TTN) NP_001243779.1:p.Lys33683=
NM_001267550.2:c.105972G>A (TTN) MANE Select NP_001254479.2:p.Lys35324=
NM_003319.4:c.78777G>A (TTN) NP_003310.4:p.Lys26259=
NM_133378.4:c.98268G>A (TTN) NP_596869.4:p.Lys32756=
NM_133432.3:c.79152G>A (TTN) NP_597676.3:p.Lys26384=
NM_133437.4:c.79353G>A (TTN) NP_597681.4:p.Lys26451=
NR_038271.1:n.446+7007C>T (TTN-AS1)
NR_038272.1:n.220-5089C>T (TTN-AS1)
XM_011511729.1:c.105069G>A (TTN) XP_011510031.1:p.Lys35023=
XM_011511730.1:c.78963G>A (TTN) XP_011510032.1:p.Lys26321=
XM_011511731.1:c.78822G>A (TTN) XP_011510033.1:p.Lys26274=
XM_017004819.1:c.104865G>A (TTN) XP_016860308.1:p.Lys34955=
XM_017004820.1:c.100263G>A (TTN) XP_016860309.1:p.Lys33421=
XM_017004821.1:c.100260G>A (TTN) XP_016860310.1:p.Lys33420=
XM_017004822.1:c.97302G>A (TTN) XP_016860311.1:p.Lys32434=
XM_017004823.1:c.78918G>A (TTN) XP_016860312.1:p.Lys26306=
XM_024453094.1:c.100413G>A (TTN) XP_024308862.1:p.Lys33471=
XM_024453095.1:c.100410G>A (TTN) XP_024308863.1:p.Lys33470=
XM_024453096.1:c.99843G>A (TTN) XP_024308864.1:p.Lys33281=
XM_024453097.1:c.97185G>A (TTN) XP_024308865.1:p.Lys32395=
XM_024453098.1:c.97104G>A (TTN) XP_024308866.1:p.Lys32368=
XM_024453099.1:c.78867G>A (TTN) XP_024308867.1:p.Lys26289=
XM_024453100.1:c.68721G>A (TTN) XP_024308868.1:p.Lys22907=