Canonical Allele Identifier: CA430103988

Linked Data

MyVariant Identifiers: chr2:g.179416364A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551637A>G , CM000664.2:g.178551637A>G GRCh38
NC_000002.11:g.179416364A>G , CM000664.1:g.179416364A>G GRCh37
NC_000002.10:g.179124610A>G NCBI36
NG_011618.3:g.284166T>C , LRG_391:g.284166T>C
NG_051363.1:g.33811A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.83559T>C (TTN) ENSP00000343764.6:p.Ser27853=
ENST00000342175.11:c.64644T>C (TTN) ENSP00000340554.6:p.Ser21548=
ENST00000359218.10:c.64443T>C (TTN) ENSP00000352154.5:p.Ser21481=
ENST00000342175.10:c.64644T>C (TTN) ENSP00000340554.6:p.Ser21548=
ENST00000342992.10:c.83559T>C (TTN) ENSP00000343764.6:p.Ser27853=
ENST00000359218.9:c.64443T>C (TTN) ENSP00000352154.5:p.Ser21481=
ENST00000460472.6:c.64068T>C (TTN) ENSP00000434586.1:p.Ser21356=
ENST00000589042.5:c.91263T>C (TTN) MANE Select ENSP00000467141.1:p.Ser30421=
ENST00000591111.5:c.86340T>C (TTN) ENSP00000465570.1:p.Ser28780=
ENST00000615779.4:c.86340T>C (TTN) ENSP00000483597.1:p.Ser28780=
NM_001256850.1:c.86340T>C (TTN) NP_001243779.1:p.Ser28780=
NM_001267550.2:c.91263T>C (TTN) MANE Select NP_001254479.2:p.Ser30421=
NM_003319.4:c.64068T>C (TTN) NP_003310.4:p.Ser21356=
NM_133378.4:c.83559T>C (TTN) NP_596869.4:p.Ser27853=
NM_133432.3:c.64443T>C (TTN) NP_597676.3:p.Ser21481=
NM_133437.4:c.64644T>C (TTN) NP_597681.4:p.Ser21548=
NR_038271.1:n.447-19663A>G (TTN-AS1)
NR_038272.1:n.2043+9276A>G (TTN-AS1)
XM_011511729.1:c.90360T>C (TTN) XP_011510031.1:p.Ser30120=
XM_011511730.1:c.64254T>C (TTN) XP_011510032.1:p.Ser21418=
XM_011511731.1:c.64113T>C (TTN) XP_011510033.1:p.Ser21371=
XM_017004819.1:c.90156T>C (TTN) XP_016860308.1:p.Ser30052=
XM_017004820.1:c.85554T>C (TTN) XP_016860309.1:p.Ser28518=
XM_017004821.1:c.85551T>C (TTN) XP_016860310.1:p.Ser28517=
XM_017004822.1:c.82593T>C (TTN) XP_016860311.1:p.Ser27531=
XM_017004823.1:c.64209T>C (TTN) XP_016860312.1:p.Ser21403=
XM_024453094.1:c.85704T>C (TTN) XP_024308862.1:p.Ser28568=
XM_024453095.1:c.85701T>C (TTN) XP_024308863.1:p.Ser28567=
XM_024453096.1:c.85134T>C (TTN) XP_024308864.1:p.Ser28378=
XM_024453097.1:c.82476T>C (TTN) XP_024308865.1:p.Ser27492=
XM_024453098.1:c.82395T>C (TTN) XP_024308866.1:p.Ser27465=
XM_024453099.1:c.64158T>C (TTN) XP_024308867.1:p.Ser21386=
XM_024453100.1:c.54012T>C (TTN) XP_024308868.1:p.Ser18004=