Canonical Allele Identifier: CA430267924

Linked Data

MyVariant Identifiers: chr2:g.179458764T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594037T>A , CM000664.2:g.178594037T>A GRCh38
NC_000002.11:g.179458764T>A , CM000664.1:g.179458764T>A GRCh37
NC_000002.10:g.179167010T>A NCBI36
NG_011618.3:g.241766A>T , LRG_391:g.241766A>T
NG_051363.1:g.76211T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.50652A>T (TTN) ENSP00000343764.6:p.Ser16884=
ENST00000342175.11:c.31737A>T (TTN) ENSP00000340554.6:p.Ser10579=
ENST00000359218.10:c.31536A>T (TTN) ENSP00000352154.5:p.Ser10512=
ENST00000342175.10:c.31737A>T (TTN) ENSP00000340554.6:p.Ser10579=
ENST00000342992.10:c.50652A>T (TTN) ENSP00000343764.6:p.Ser16884=
ENST00000359218.9:c.31536A>T (TTN) ENSP00000352154.5:p.Ser10512=
ENST00000460472.6:c.31161A>T (TTN) ENSP00000434586.1:p.Ser10387=
ENST00000589042.5:c.58356A>T (TTN) MANE Select ENSP00000467141.1:p.Ser19452=
ENST00000591111.5:c.53433A>T (TTN) ENSP00000465570.1:p.Ser17811=
ENST00000615779.4:c.53433A>T (TTN) ENSP00000483597.1:p.Ser17811=
NM_001256850.1:c.53433A>T (TTN) NP_001243779.1:p.Ser17811=
NM_001267550.2:c.58356A>T (TTN) MANE Select NP_001254479.2:p.Ser19452=
NM_003319.4:c.31161A>T (TTN) NP_003310.4:p.Ser10387=
NM_133378.4:c.50652A>T (TTN) NP_596869.4:p.Ser16884=
NM_133432.3:c.31536A>T (TTN) NP_597676.3:p.Ser10512=
NM_133437.4:c.31737A>T (TTN) NP_597681.4:p.Ser10579=
NR_038271.1:n.597-3559T>A (TTN-AS1)
NR_038272.1:n.3364+2723T>A (TTN-AS1)
XM_011511729.1:c.57453A>T (TTN) XP_011510031.1:p.Ser19151=
XM_011511730.1:c.31347A>T (TTN) XP_011510032.1:p.Ser10449=
XM_011511731.1:c.31206A>T (TTN) XP_011510033.1:p.Ser10402=
XM_017004819.1:c.57249A>T (TTN) XP_016860308.1:p.Ser19083=
XM_017004820.1:c.52647A>T (TTN) XP_016860309.1:p.Ser17549=
XM_017004821.1:c.52644A>T (TTN) XP_016860310.1:p.Ser17548=
XM_017004822.1:c.49686A>T (TTN) XP_016860311.1:p.Ser16562=
XM_017004823.1:c.31302A>T (TTN) XP_016860312.1:p.Ser10434=
XM_024453094.1:c.52797A>T (TTN) XP_024308862.1:p.Ser17599=
XM_024453095.1:c.52794A>T (TTN) XP_024308863.1:p.Ser17598=
XM_024453096.1:c.52227A>T (TTN) XP_024308864.1:p.Ser17409=
XM_024453097.1:c.49569A>T (TTN) XP_024308865.1:p.Ser16523=
XM_024453098.1:c.49488A>T (TTN) XP_024308866.1:p.Ser16496=
XM_024453099.1:c.31251A>T (TTN) XP_024308867.1:p.Ser10417=
XM_024453100.1:c.21105A>T (TTN) XP_024308868.1:p.Ser7035=