Canonical Allele Identifier: CA430237922

Linked Data

MyVariant Identifiers: chr2:g.179398784G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534057G>C , CM000664.2:g.178534057G>C GRCh38
NC_000002.11:g.179398784G>C , CM000664.1:g.179398784G>C GRCh37
NC_000002.10:g.179107030G>C NCBI36
NG_011618.3:g.301746C>G , LRG_391:g.301746C>G
NG_051363.1:g.16231G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94854C>G (TTN) ENSP00000343764.6:p.Thr31618=
ENST00000342175.11:c.75939C>G (TTN) ENSP00000340554.6:p.Thr25313=
ENST00000359218.10:c.75738C>G (TTN) ENSP00000352154.5:p.Thr25246=
ENST00000342175.10:c.75939C>G (TTN) ENSP00000340554.6:p.Thr25313=
ENST00000342992.10:c.94854C>G (TTN) ENSP00000343764.6:p.Thr31618=
ENST00000359218.9:c.75738C>G (TTN) ENSP00000352154.5:p.Thr25246=
ENST00000460472.6:c.75363C>G (TTN) ENSP00000434586.1:p.Thr25121=
ENST00000589042.5:c.102558C>G (TTN) MANE Select ENSP00000467141.1:p.Thr34186=
ENST00000591111.5:c.97635C>G (TTN) ENSP00000465570.1:p.Thr32545=
ENST00000615779.4:c.97635C>G (TTN) ENSP00000483597.1:p.Thr32545=
NM_001256850.1:c.97635C>G (TTN) NP_001243779.1:p.Thr32545=
NM_001267550.2:c.102558C>G (TTN) MANE Select NP_001254479.2:p.Thr34186=
NM_003319.4:c.75363C>G (TTN) NP_003310.4:p.Thr25121=
NM_133378.4:c.94854C>G (TTN) NP_596869.4:p.Thr31618=
NM_133432.3:c.75738C>G (TTN) NP_597676.3:p.Thr25246=
NM_133437.4:c.75939C>G (TTN) NP_597681.4:p.Thr25313=
NR_038271.1:n.446+10421G>C (TTN-AS1)
NR_038272.1:n.220-1675G>C (TTN-AS1)
XM_011511729.1:c.101655C>G (TTN) XP_011510031.1:p.Thr33885=
XM_011511730.1:c.75549C>G (TTN) XP_011510032.1:p.Thr25183=
XM_011511731.1:c.75408C>G (TTN) XP_011510033.1:p.Thr25136=
XM_017004819.1:c.101451C>G (TTN) XP_016860308.1:p.Thr33817=
XM_017004820.1:c.96849C>G (TTN) XP_016860309.1:p.Thr32283=
XM_017004821.1:c.96846C>G (TTN) XP_016860310.1:p.Thr32282=
XM_017004822.1:c.93888C>G (TTN) XP_016860311.1:p.Thr31296=
XM_017004823.1:c.75504C>G (TTN) XP_016860312.1:p.Thr25168=
XM_024453094.1:c.96999C>G (TTN) XP_024308862.1:p.Thr32333=
XM_024453095.1:c.96996C>G (TTN) XP_024308863.1:p.Thr32332=
XM_024453096.1:c.96429C>G (TTN) XP_024308864.1:p.Thr32143=
XM_024453097.1:c.93771C>G (TTN) XP_024308865.1:p.Thr31257=
XM_024453098.1:c.93690C>G (TTN) XP_024308866.1:p.Thr31230=
XM_024453099.1:c.75453C>G (TTN) XP_024308867.1:p.Thr25151=
XM_024453100.1:c.65307C>G (TTN) XP_024308868.1:p.Thr21769=