Canonical Allele Identifier: CA430235913

Linked Data

MyVariant Identifiers: chr2:g.179396909T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532182T>C , CM000664.2:g.178532182T>C GRCh38
NC_000002.11:g.179396909T>C , CM000664.1:g.179396909T>C GRCh37
NC_000002.10:g.179105155T>C NCBI36
NG_011618.3:g.303621A>G , LRG_391:g.303621A>G
NG_051363.1:g.14356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96729A>G (TTN) ENSP00000343764.6:p.Glu32243=
ENST00000342175.11:c.77814A>G (TTN) ENSP00000340554.6:p.Glu25938=
ENST00000359218.10:c.77613A>G (TTN) ENSP00000352154.5:p.Glu25871=
ENST00000342175.10:c.77814A>G (TTN) ENSP00000340554.6:p.Glu25938=
ENST00000342992.10:c.96729A>G (TTN) ENSP00000343764.6:p.Glu32243=
ENST00000359218.9:c.77613A>G (TTN) ENSP00000352154.5:p.Glu25871=
ENST00000460472.6:c.77238A>G (TTN) ENSP00000434586.1:p.Glu25746=
ENST00000589042.5:c.104433A>G (TTN) MANE Select ENSP00000467141.1:p.Glu34811=
ENST00000591111.5:c.99510A>G (TTN) ENSP00000465570.1:p.Glu33170=
ENST00000615779.4:c.99510A>G (TTN) ENSP00000483597.1:p.Glu33170=
NM_001256850.1:c.99510A>G (TTN) NP_001243779.1:p.Glu33170=
NM_001267550.2:c.104433A>G (TTN) MANE Select NP_001254479.2:p.Glu34811=
NM_003319.4:c.77238A>G (TTN) NP_003310.4:p.Glu25746=
NM_133378.4:c.96729A>G (TTN) NP_596869.4:p.Glu32243=
NM_133432.3:c.77613A>G (TTN) NP_597676.3:p.Glu25871=
NM_133437.4:c.77814A>G (TTN) NP_597681.4:p.Glu25938=
NR_038271.1:n.446+8546T>C (TTN-AS1)
NR_038272.1:n.220-3550T>C (TTN-AS1)
XM_011511729.1:c.103530A>G (TTN) XP_011510031.1:p.Glu34510=
XM_011511730.1:c.77424A>G (TTN) XP_011510032.1:p.Glu25808=
XM_011511731.1:c.77283A>G (TTN) XP_011510033.1:p.Glu25761=
XM_017004819.1:c.103326A>G (TTN) XP_016860308.1:p.Glu34442=
XM_017004820.1:c.98724A>G (TTN) XP_016860309.1:p.Glu32908=
XM_017004821.1:c.98721A>G (TTN) XP_016860310.1:p.Glu32907=
XM_017004822.1:c.95763A>G (TTN) XP_016860311.1:p.Glu31921=
XM_017004823.1:c.77379A>G (TTN) XP_016860312.1:p.Glu25793=
XM_024453094.1:c.98874A>G (TTN) XP_024308862.1:p.Glu32958=
XM_024453095.1:c.98871A>G (TTN) XP_024308863.1:p.Glu32957=
XM_024453096.1:c.98304A>G (TTN) XP_024308864.1:p.Glu32768=
XM_024453097.1:c.95646A>G (TTN) XP_024308865.1:p.Glu31882=
XM_024453098.1:c.95565A>G (TTN) XP_024308866.1:p.Glu31855=
XM_024453099.1:c.77328A>G (TTN) XP_024308867.1:p.Glu25776=
XM_024453100.1:c.67182A>G (TTN) XP_024308868.1:p.Glu22394=