Canonical Allele Identifier: CA430248127

Linked Data

MyVariant Identifiers: chr2:g.179424480A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559753A>C , CM000664.2:g.178559753A>C GRCh38
NC_000002.11:g.179424480A>C , CM000664.1:g.179424480A>C GRCh37
NC_000002.10:g.179132726A>C NCBI36
NG_011618.3:g.276050T>G , LRG_391:g.276050T>G
NG_051363.1:g.41927A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.78675T>G (TTN) ENSP00000343764.6:p.Thr26225=
ENST00000342175.11:c.59760T>G (TTN) ENSP00000340554.6:p.Thr19920=
ENST00000359218.10:c.59559T>G (TTN) ENSP00000352154.5:p.Thr19853=
ENST00000342175.10:c.59760T>G (TTN) ENSP00000340554.6:p.Thr19920=
ENST00000342992.10:c.78675T>G (TTN) ENSP00000343764.6:p.Thr26225=
ENST00000359218.9:c.59559T>G (TTN) ENSP00000352154.5:p.Thr19853=
ENST00000460472.6:c.59184T>G (TTN) ENSP00000434586.1:p.Thr19728=
ENST00000589042.5:c.86379T>G (TTN) MANE Select ENSP00000467141.1:p.Thr28793=
ENST00000591111.5:c.81456T>G (TTN) ENSP00000465570.1:p.Thr27152=
ENST00000615779.4:c.81456T>G (TTN) ENSP00000483597.1:p.Thr27152=
NM_001256850.1:c.81456T>G (TTN) NP_001243779.1:p.Thr27152=
NM_001267550.2:c.86379T>G (TTN) MANE Select NP_001254479.2:p.Thr28793=
NM_003319.4:c.59184T>G (TTN) NP_003310.4:p.Thr19728=
NM_133378.4:c.78675T>G (TTN) NP_596869.4:p.Thr26225=
NM_133432.3:c.59559T>G (TTN) NP_597676.3:p.Thr19853=
NM_133437.4:c.59760T>G (TTN) NP_597681.4:p.Thr19920=
NR_038271.1:n.447-11547A>C (TTN-AS1)
NR_038272.1:n.2043+17392A>C (TTN-AS1)
XM_011511729.1:c.85476T>G (TTN) XP_011510031.1:p.Thr28492=
XM_011511730.1:c.59370T>G (TTN) XP_011510032.1:p.Thr19790=
XM_011511731.1:c.59229T>G (TTN) XP_011510033.1:p.Thr19743=
XM_017004819.1:c.85272T>G (TTN) XP_016860308.1:p.Thr28424=
XM_017004820.1:c.80670T>G (TTN) XP_016860309.1:p.Thr26890=
XM_017004821.1:c.80667T>G (TTN) XP_016860310.1:p.Thr26889=
XM_017004822.1:c.77709T>G (TTN) XP_016860311.1:p.Thr25903=
XM_017004823.1:c.59325T>G (TTN) XP_016860312.1:p.Thr19775=
XM_024453094.1:c.80820T>G (TTN) XP_024308862.1:p.Thr26940=
XM_024453095.1:c.80817T>G (TTN) XP_024308863.1:p.Thr26939=
XM_024453096.1:c.80250T>G (TTN) XP_024308864.1:p.Thr26750=
XM_024453097.1:c.77592T>G (TTN) XP_024308865.1:p.Thr25864=
XM_024453098.1:c.77511T>G (TTN) XP_024308866.1:p.Thr25837=
XM_024453099.1:c.59274T>G (TTN) XP_024308867.1:p.Thr19758=
XM_024453100.1:c.49128T>G (TTN) XP_024308868.1:p.Thr16376=