Canonical Allele Identifier: CA430235942

Linked Data

MyVariant Identifiers: chr2:g.179396954C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532227C>T , CM000664.2:g.178532227C>T GRCh38
NC_000002.11:g.179396954C>T , CM000664.1:g.179396954C>T GRCh37
NC_000002.10:g.179105200C>T NCBI36
NG_011618.3:g.303576G>A , LRG_391:g.303576G>A
NG_051363.1:g.14401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96684G>A (TTN) ENSP00000343764.6:p.Glu32228=
ENST00000342175.11:c.77769G>A (TTN) ENSP00000340554.6:p.Glu25923=
ENST00000359218.10:c.77568G>A (TTN) ENSP00000352154.5:p.Glu25856=
ENST00000342175.10:c.77769G>A (TTN) ENSP00000340554.6:p.Glu25923=
ENST00000342992.10:c.96684G>A (TTN) ENSP00000343764.6:p.Glu32228=
ENST00000359218.9:c.77568G>A (TTN) ENSP00000352154.5:p.Glu25856=
ENST00000460472.6:c.77193G>A (TTN) ENSP00000434586.1:p.Glu25731=
ENST00000589042.5:c.104388G>A (TTN) MANE Select ENSP00000467141.1:p.Glu34796=
ENST00000591111.5:c.99465G>A (TTN) ENSP00000465570.1:p.Glu33155=
ENST00000615779.4:c.99465G>A (TTN) ENSP00000483597.1:p.Glu33155=
NM_001256850.1:c.99465G>A (TTN) NP_001243779.1:p.Glu33155=
NM_001267550.2:c.104388G>A (TTN) MANE Select NP_001254479.2:p.Glu34796=
NM_003319.4:c.77193G>A (TTN) NP_003310.4:p.Glu25731=
NM_133378.4:c.96684G>A (TTN) NP_596869.4:p.Glu32228=
NM_133432.3:c.77568G>A (TTN) NP_597676.3:p.Glu25856=
NM_133437.4:c.77769G>A (TTN) NP_597681.4:p.Glu25923=
NR_038271.1:n.446+8591C>T (TTN-AS1)
NR_038272.1:n.220-3505C>T (TTN-AS1)
XM_011511729.1:c.103485G>A (TTN) XP_011510031.1:p.Glu34495=
XM_011511730.1:c.77379G>A (TTN) XP_011510032.1:p.Glu25793=
XM_011511731.1:c.77238G>A (TTN) XP_011510033.1:p.Glu25746=
XM_017004819.1:c.103281G>A (TTN) XP_016860308.1:p.Glu34427=
XM_017004820.1:c.98679G>A (TTN) XP_016860309.1:p.Glu32893=
XM_017004821.1:c.98676G>A (TTN) XP_016860310.1:p.Glu32892=
XM_017004822.1:c.95718G>A (TTN) XP_016860311.1:p.Glu31906=
XM_017004823.1:c.77334G>A (TTN) XP_016860312.1:p.Glu25778=
XM_024453094.1:c.98829G>A (TTN) XP_024308862.1:p.Glu32943=
XM_024453095.1:c.98826G>A (TTN) XP_024308863.1:p.Glu32942=
XM_024453096.1:c.98259G>A (TTN) XP_024308864.1:p.Glu32753=
XM_024453097.1:c.95601G>A (TTN) XP_024308865.1:p.Glu31867=
XM_024453098.1:c.95520G>A (TTN) XP_024308866.1:p.Glu31840=
XM_024453099.1:c.77283G>A (TTN) XP_024308867.1:p.Glu25761=
XM_024453100.1:c.67137G>A (TTN) XP_024308868.1:p.Glu22379=