Canonical Allele Identifier: CA430245595

Linked Data

MyVariant Identifiers: chr2:g.179417387A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552660A>C , CM000664.2:g.178552660A>C GRCh38
NC_000002.11:g.179417387A>C , CM000664.1:g.179417387A>C GRCh37
NC_000002.10:g.179125633A>C NCBI36
NG_011618.3:g.283143T>G , LRG_391:g.283143T>G
NG_051363.1:g.34834A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82536T>G (TTN) ENSP00000343764.6:p.Ala27512=
ENST00000342175.11:c.63621T>G (TTN) ENSP00000340554.6:p.Ala21207=
ENST00000359218.10:c.63420T>G (TTN) ENSP00000352154.5:p.Ala21140=
ENST00000342175.10:c.63621T>G (TTN) ENSP00000340554.6:p.Ala21207=
ENST00000342992.10:c.82536T>G (TTN) ENSP00000343764.6:p.Ala27512=
ENST00000359218.9:c.63420T>G (TTN) ENSP00000352154.5:p.Ala21140=
ENST00000460472.6:c.63045T>G (TTN) ENSP00000434586.1:p.Ala21015=
ENST00000589042.5:c.90240T>G (TTN) MANE Select ENSP00000467141.1:p.Ala30080=
ENST00000591111.5:c.85317T>G (TTN) ENSP00000465570.1:p.Ala28439=
ENST00000615779.4:c.85317T>G (TTN) ENSP00000483597.1:p.Ala28439=
NM_001256850.1:c.85317T>G (TTN) NP_001243779.1:p.Ala28439=
NM_001267550.2:c.90240T>G (TTN) MANE Select NP_001254479.2:p.Ala30080=
NM_003319.4:c.63045T>G (TTN) NP_003310.4:p.Ala21015=
NM_133378.4:c.82536T>G (TTN) NP_596869.4:p.Ala27512=
NM_133432.3:c.63420T>G (TTN) NP_597676.3:p.Ala21140=
NM_133437.4:c.63621T>G (TTN) NP_597681.4:p.Ala21207=
NR_038271.1:n.447-18640A>C (TTN-AS1)
NR_038272.1:n.2043+10299A>C (TTN-AS1)
XM_011511729.1:c.89337T>G (TTN) XP_011510031.1:p.Ala29779=
XM_011511730.1:c.63231T>G (TTN) XP_011510032.1:p.Ala21077=
XM_011511731.1:c.63090T>G (TTN) XP_011510033.1:p.Ala21030=
XM_017004819.1:c.89133T>G (TTN) XP_016860308.1:p.Ala29711=
XM_017004820.1:c.84531T>G (TTN) XP_016860309.1:p.Ala28177=
XM_017004821.1:c.84528T>G (TTN) XP_016860310.1:p.Ala28176=
XM_017004822.1:c.81570T>G (TTN) XP_016860311.1:p.Ala27190=
XM_017004823.1:c.63186T>G (TTN) XP_016860312.1:p.Ala21062=
XM_024453094.1:c.84681T>G (TTN) XP_024308862.1:p.Ala28227=
XM_024453095.1:c.84678T>G (TTN) XP_024308863.1:p.Ala28226=
XM_024453096.1:c.84111T>G (TTN) XP_024308864.1:p.Ala28037=
XM_024453097.1:c.81453T>G (TTN) XP_024308865.1:p.Ala27151=
XM_024453098.1:c.81372T>G (TTN) XP_024308866.1:p.Ala27124=
XM_024453099.1:c.63135T>G (TTN) XP_024308867.1:p.Ala21045=
XM_024453100.1:c.52989T>G (TTN) XP_024308868.1:p.Ala17663=