Canonical Allele Identifier: CA430267917

Linked Data

MyVariant Identifiers: chr2:g.179458752T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594025T>C , CM000664.2:g.178594025T>C GRCh38
NC_000002.11:g.179458752T>C , CM000664.1:g.179458752T>C GRCh37
NC_000002.10:g.179166998T>C NCBI36
NG_011618.3:g.241778A>G , LRG_391:g.241778A>G
NG_051363.1:g.76199T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.50664A>G (TTN) ENSP00000343764.6:p.Lys16888=
ENST00000342175.11:c.31749A>G (TTN) ENSP00000340554.6:p.Lys10583=
ENST00000359218.10:c.31548A>G (TTN) ENSP00000352154.5:p.Lys10516=
ENST00000342175.10:c.31749A>G (TTN) ENSP00000340554.6:p.Lys10583=
ENST00000342992.10:c.50664A>G (TTN) ENSP00000343764.6:p.Lys16888=
ENST00000359218.9:c.31548A>G (TTN) ENSP00000352154.5:p.Lys10516=
ENST00000460472.6:c.31173A>G (TTN) ENSP00000434586.1:p.Lys10391=
ENST00000589042.5:c.58368A>G (TTN) MANE Select ENSP00000467141.1:p.Lys19456=
ENST00000591111.5:c.53445A>G (TTN) ENSP00000465570.1:p.Lys17815=
ENST00000615779.4:c.53445A>G (TTN) ENSP00000483597.1:p.Lys17815=
NM_001256850.1:c.53445A>G (TTN) NP_001243779.1:p.Lys17815=
NM_001267550.2:c.58368A>G (TTN) MANE Select NP_001254479.2:p.Lys19456=
NM_003319.4:c.31173A>G (TTN) NP_003310.4:p.Lys10391=
NM_133378.4:c.50664A>G (TTN) NP_596869.4:p.Lys16888=
NM_133432.3:c.31548A>G (TTN) NP_597676.3:p.Lys10516=
NM_133437.4:c.31749A>G (TTN) NP_597681.4:p.Lys10583=
NR_038271.1:n.597-3571T>C (TTN-AS1)
NR_038272.1:n.3364+2711T>C (TTN-AS1)
XM_011511729.1:c.57465A>G (TTN) XP_011510031.1:p.Lys19155=
XM_011511730.1:c.31359A>G (TTN) XP_011510032.1:p.Lys10453=
XM_011511731.1:c.31218A>G (TTN) XP_011510033.1:p.Lys10406=
XM_017004819.1:c.57261A>G (TTN) XP_016860308.1:p.Lys19087=
XM_017004820.1:c.52659A>G (TTN) XP_016860309.1:p.Lys17553=
XM_017004821.1:c.52656A>G (TTN) XP_016860310.1:p.Lys17552=
XM_017004822.1:c.49698A>G (TTN) XP_016860311.1:p.Lys16566=
XM_017004823.1:c.31314A>G (TTN) XP_016860312.1:p.Lys10438=
XM_024453094.1:c.52809A>G (TTN) XP_024308862.1:p.Lys17603=
XM_024453095.1:c.52806A>G (TTN) XP_024308863.1:p.Lys17602=
XM_024453096.1:c.52239A>G (TTN) XP_024308864.1:p.Lys17413=
XM_024453097.1:c.49581A>G (TTN) XP_024308865.1:p.Lys16527=
XM_024453098.1:c.49500A>G (TTN) XP_024308866.1:p.Lys16500=
XM_024453099.1:c.31263A>G (TTN) XP_024308867.1:p.Lys10421=
XM_024453100.1:c.21117A>G (TTN) XP_024308868.1:p.Lys7039=