Canonical Allele Identifier: CA430235951

Linked Data

MyVariant Identifiers: chr2:g.179396975T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532248T>C , CM000664.2:g.178532248T>C GRCh38
NC_000002.11:g.179396975T>C , CM000664.1:g.179396975T>C GRCh37
NC_000002.10:g.179105221T>C NCBI36
NG_011618.3:g.303555A>G , LRG_391:g.303555A>G
NG_051363.1:g.14422T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96663A>G (TTN) ENSP00000343764.6:p.Glu32221=
ENST00000342175.11:c.77748A>G (TTN) ENSP00000340554.6:p.Glu25916=
ENST00000359218.10:c.77547A>G (TTN) ENSP00000352154.5:p.Glu25849=
ENST00000342175.10:c.77748A>G (TTN) ENSP00000340554.6:p.Glu25916=
ENST00000342992.10:c.96663A>G (TTN) ENSP00000343764.6:p.Glu32221=
ENST00000359218.9:c.77547A>G (TTN) ENSP00000352154.5:p.Glu25849=
ENST00000460472.6:c.77172A>G (TTN) ENSP00000434586.1:p.Glu25724=
ENST00000589042.5:c.104367A>G (TTN) MANE Select ENSP00000467141.1:p.Glu34789=
ENST00000591111.5:c.99444A>G (TTN) ENSP00000465570.1:p.Glu33148=
ENST00000615779.4:c.99444A>G (TTN) ENSP00000483597.1:p.Glu33148=
NM_001256850.1:c.99444A>G (TTN) NP_001243779.1:p.Glu33148=
NM_001267550.2:c.104367A>G (TTN) MANE Select NP_001254479.2:p.Glu34789=
NM_003319.4:c.77172A>G (TTN) NP_003310.4:p.Glu25724=
NM_133378.4:c.96663A>G (TTN) NP_596869.4:p.Glu32221=
NM_133432.3:c.77547A>G (TTN) NP_597676.3:p.Glu25849=
NM_133437.4:c.77748A>G (TTN) NP_597681.4:p.Glu25916=
NR_038271.1:n.446+8612T>C (TTN-AS1)
NR_038272.1:n.220-3484T>C (TTN-AS1)
XM_011511729.1:c.103464A>G (TTN) XP_011510031.1:p.Glu34488=
XM_011511730.1:c.77358A>G (TTN) XP_011510032.1:p.Glu25786=
XM_011511731.1:c.77217A>G (TTN) XP_011510033.1:p.Glu25739=
XM_017004819.1:c.103260A>G (TTN) XP_016860308.1:p.Glu34420=
XM_017004820.1:c.98658A>G (TTN) XP_016860309.1:p.Glu32886=
XM_017004821.1:c.98655A>G (TTN) XP_016860310.1:p.Glu32885=
XM_017004822.1:c.95697A>G (TTN) XP_016860311.1:p.Glu31899=
XM_017004823.1:c.77313A>G (TTN) XP_016860312.1:p.Glu25771=
XM_024453094.1:c.98808A>G (TTN) XP_024308862.1:p.Glu32936=
XM_024453095.1:c.98805A>G (TTN) XP_024308863.1:p.Glu32935=
XM_024453096.1:c.98238A>G (TTN) XP_024308864.1:p.Glu32746=
XM_024453097.1:c.95580A>G (TTN) XP_024308865.1:p.Glu31860=
XM_024453098.1:c.95499A>G (TTN) XP_024308866.1:p.Glu31833=
XM_024453099.1:c.77262A>G (TTN) XP_024308867.1:p.Glu25754=
XM_024453100.1:c.67116A>G (TTN) XP_024308868.1:p.Glu22372=