Canonical Allele Identifier: CA430242024

Linked Data

MyVariant Identifiers: chr2:g.179411039A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546312A>G , CM000664.2:g.178546312A>G GRCh38
NC_000002.11:g.179411039A>G , CM000664.1:g.179411039A>G GRCh37
NC_000002.10:g.179119285A>G NCBI36
NG_011618.3:g.289491T>C , LRG_391:g.289491T>C
NG_051363.1:g.28486A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87315T>C (TTN) ENSP00000343764.6:p.Ala29105=
ENST00000342175.11:c.68400T>C (TTN) ENSP00000340554.6:p.Ala22800=
ENST00000359218.10:c.68199T>C (TTN) ENSP00000352154.5:p.Ala22733=
ENST00000342175.10:c.68400T>C (TTN) ENSP00000340554.6:p.Ala22800=
ENST00000342992.10:c.87315T>C (TTN) ENSP00000343764.6:p.Ala29105=
ENST00000359218.9:c.68199T>C (TTN) ENSP00000352154.5:p.Ala22733=
ENST00000460472.6:c.67824T>C (TTN) ENSP00000434586.1:p.Ala22608=
ENST00000589042.5:c.95019T>C (TTN) MANE Select ENSP00000467141.1:p.Ala31673=
ENST00000591111.5:c.90096T>C (TTN) ENSP00000465570.1:p.Ala30032=
ENST00000615779.4:c.90096T>C (TTN) ENSP00000483597.1:p.Ala30032=
NM_001256850.1:c.90096T>C (TTN) NP_001243779.1:p.Ala30032=
NM_001267550.2:c.95019T>C (TTN) MANE Select NP_001254479.2:p.Ala31673=
NM_003319.4:c.67824T>C (TTN) NP_003310.4:p.Ala22608=
NM_133378.4:c.87315T>C (TTN) NP_596869.4:p.Ala29105=
NM_133432.3:c.68199T>C (TTN) NP_597676.3:p.Ala22733=
NM_133437.4:c.68400T>C (TTN) NP_597681.4:p.Ala22800=
NR_038271.1:n.446+22676A>G (TTN-AS1)
NR_038272.1:n.2043+3951A>G (TTN-AS1)
XM_011511729.1:c.94116T>C (TTN) XP_011510031.1:p.Ala31372=
XM_011511730.1:c.68010T>C (TTN) XP_011510032.1:p.Ala22670=
XM_011511731.1:c.67869T>C (TTN) XP_011510033.1:p.Ala22623=
XM_017004819.1:c.93912T>C (TTN) XP_016860308.1:p.Ala31304=
XM_017004820.1:c.89310T>C (TTN) XP_016860309.1:p.Ala29770=
XM_017004821.1:c.89307T>C (TTN) XP_016860310.1:p.Ala29769=
XM_017004822.1:c.86349T>C (TTN) XP_016860311.1:p.Ala28783=
XM_017004823.1:c.67965T>C (TTN) XP_016860312.1:p.Ala22655=
XM_024453094.1:c.89460T>C (TTN) XP_024308862.1:p.Ala29820=
XM_024453095.1:c.89457T>C (TTN) XP_024308863.1:p.Ala29819=
XM_024453096.1:c.88890T>C (TTN) XP_024308864.1:p.Ala29630=
XM_024453097.1:c.86232T>C (TTN) XP_024308865.1:p.Ala28744=
XM_024453098.1:c.86151T>C (TTN) XP_024308866.1:p.Ala28717=
XM_024453099.1:c.67914T>C (TTN) XP_024308867.1:p.Ala22638=
XM_024453100.1:c.57768T>C (TTN) XP_024308868.1:p.Ala19256=