Canonical Allele Identifier: CA430247943

Linked Data

MyVariant Identifiers: chr2:g.179424360A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178559633A>C , CM000664.2:g.178559633A>C GRCh38
NC_000002.11:g.179424360A>C , CM000664.1:g.179424360A>C GRCh37
NC_000002.10:g.179132606A>C NCBI36
NG_011618.3:g.276170T>G , LRG_391:g.276170T>G
NG_051363.1:g.41807A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.78795T>G (TTN) ENSP00000343764.6:p.Ala26265=
ENST00000342175.11:c.59880T>G (TTN) ENSP00000340554.6:p.Ala19960=
ENST00000359218.10:c.59679T>G (TTN) ENSP00000352154.5:p.Ala19893=
ENST00000342175.10:c.59880T>G (TTN) ENSP00000340554.6:p.Ala19960=
ENST00000342992.10:c.78795T>G (TTN) ENSP00000343764.6:p.Ala26265=
ENST00000359218.9:c.59679T>G (TTN) ENSP00000352154.5:p.Ala19893=
ENST00000460472.6:c.59304T>G (TTN) ENSP00000434586.1:p.Ala19768=
ENST00000589042.5:c.86499T>G (TTN) MANE Select ENSP00000467141.1:p.Ala28833=
ENST00000591111.5:c.81576T>G (TTN) ENSP00000465570.1:p.Ala27192=
ENST00000615779.4:c.81576T>G (TTN) ENSP00000483597.1:p.Ala27192=
NM_001256850.1:c.81576T>G (TTN) NP_001243779.1:p.Ala27192=
NM_001267550.2:c.86499T>G (TTN) MANE Select NP_001254479.2:p.Ala28833=
NM_003319.4:c.59304T>G (TTN) NP_003310.4:p.Ala19768=
NM_133378.4:c.78795T>G (TTN) NP_596869.4:p.Ala26265=
NM_133432.3:c.59679T>G (TTN) NP_597676.3:p.Ala19893=
NM_133437.4:c.59880T>G (TTN) NP_597681.4:p.Ala19960=
NR_038271.1:n.447-11667A>C (TTN-AS1)
NR_038272.1:n.2043+17272A>C (TTN-AS1)
XM_011511729.1:c.85596T>G (TTN) XP_011510031.1:p.Ala28532=
XM_011511730.1:c.59490T>G (TTN) XP_011510032.1:p.Ala19830=
XM_011511731.1:c.59349T>G (TTN) XP_011510033.1:p.Ala19783=
XM_017004819.1:c.85392T>G (TTN) XP_016860308.1:p.Ala28464=
XM_017004820.1:c.80790T>G (TTN) XP_016860309.1:p.Ala26930=
XM_017004821.1:c.80787T>G (TTN) XP_016860310.1:p.Ala26929=
XM_017004822.1:c.77829T>G (TTN) XP_016860311.1:p.Ala25943=
XM_017004823.1:c.59445T>G (TTN) XP_016860312.1:p.Ala19815=
XM_024453094.1:c.80940T>G (TTN) XP_024308862.1:p.Ala26980=
XM_024453095.1:c.80937T>G (TTN) XP_024308863.1:p.Ala26979=
XM_024453096.1:c.80370T>G (TTN) XP_024308864.1:p.Ala26790=
XM_024453097.1:c.77712T>G (TTN) XP_024308865.1:p.Ala25904=
XM_024453098.1:c.77631T>G (TTN) XP_024308866.1:p.Ala25877=
XM_024453099.1:c.59394T>G (TTN) XP_024308867.1:p.Ala19798=
XM_024453100.1:c.49248T>G (TTN) XP_024308868.1:p.Ala16416=