Canonical Allele Identifier: CA430264037

Linked Data

MyVariant Identifiers: chr2:g.179449397A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584670A>G , CM000664.2:g.178584670A>G GRCh38
NC_000002.11:g.179449397A>G , CM000664.1:g.179449397A>G GRCh37
NC_000002.10:g.179157643A>G NCBI36
NG_011618.3:g.251133T>C , LRG_391:g.251133T>C
NG_051363.1:g.66844A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57267T>C (TTN) ENSP00000343764.6:p.Phe19089=
ENST00000342175.11:c.38352T>C (TTN) ENSP00000340554.6:p.Phe12784=
ENST00000359218.10:c.38151T>C (TTN) ENSP00000352154.5:p.Phe12717=
ENST00000342175.10:c.38352T>C (TTN) ENSP00000340554.6:p.Phe12784=
ENST00000342992.10:c.57267T>C (TTN) ENSP00000343764.6:p.Phe19089=
ENST00000359218.9:c.38151T>C (TTN) ENSP00000352154.5:p.Phe12717=
ENST00000460472.6:c.37776T>C (TTN) ENSP00000434586.1:p.Phe12592=
ENST00000589042.5:c.64971T>C (TTN) MANE Select ENSP00000467141.1:p.Phe21657=
ENST00000591111.5:c.60048T>C (TTN) ENSP00000465570.1:p.Phe20016=
ENST00000615779.4:c.60048T>C (TTN) ENSP00000483597.1:p.Phe20016=
NM_001256850.1:c.60048T>C (TTN) NP_001243779.1:p.Phe20016=
NM_001267550.2:c.64971T>C (TTN) MANE Select NP_001254479.2:p.Phe21657=
NM_003319.4:c.37776T>C (TTN) NP_003310.4:p.Phe12592=
NM_133378.4:c.57267T>C (TTN) NP_596869.4:p.Phe19089=
NM_133432.3:c.38151T>C (TTN) NP_597676.3:p.Phe12717=
NM_133437.4:c.38352T>C (TTN) NP_597681.4:p.Phe12784=
NR_038271.1:n.597-12926A>G (TTN-AS1)
NR_038272.1:n.2865A>G (TTN-AS1)
XM_011511729.1:c.64068T>C (TTN) XP_011510031.1:p.Phe21356=
XM_011511730.1:c.37962T>C (TTN) XP_011510032.1:p.Phe12654=
XM_011511731.1:c.37821T>C (TTN) XP_011510033.1:p.Phe12607=
XM_017004819.1:c.63864T>C (TTN) XP_016860308.1:p.Phe21288=
XM_017004820.1:c.59262T>C (TTN) XP_016860309.1:p.Phe19754=
XM_017004821.1:c.59259T>C (TTN) XP_016860310.1:p.Phe19753=
XM_017004822.1:c.56301T>C (TTN) XP_016860311.1:p.Phe18767=
XM_017004823.1:c.37917T>C (TTN) XP_016860312.1:p.Phe12639=
XM_024453094.1:c.59412T>C (TTN) XP_024308862.1:p.Phe19804=
XM_024453095.1:c.59409T>C (TTN) XP_024308863.1:p.Phe19803=
XM_024453096.1:c.58842T>C (TTN) XP_024308864.1:p.Phe19614=
XM_024453097.1:c.56184T>C (TTN) XP_024308865.1:p.Phe18728=
XM_024453098.1:c.56103T>C (TTN) XP_024308866.1:p.Phe18701=
XM_024453099.1:c.37866T>C (TTN) XP_024308867.1:p.Phe12622=
XM_024453100.1:c.27720T>C (TTN) XP_024308868.1:p.Phe9240=