Canonical Allele Identifier: CA430267326

Linked Data

MyVariant Identifiers: chr2:g.179457521G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178592794G>A , CM000664.2:g.178592794G>A GRCh38
NC_000002.11:g.179457521G>A , CM000664.1:g.179457521G>A GRCh37
NC_000002.10:g.179165767G>A NCBI36
NG_011618.3:g.243009C>T , LRG_391:g.243009C>T
NG_051363.1:g.74968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51621C>T (TTN) ENSP00000343764.6:p.Val17207=
ENST00000342175.11:c.32706C>T (TTN) ENSP00000340554.6:p.Val10902=
ENST00000359218.10:c.32505C>T (TTN) ENSP00000352154.5:p.Val10835=
ENST00000342175.10:c.32706C>T (TTN) ENSP00000340554.6:p.Val10902=
ENST00000342992.10:c.51621C>T (TTN) ENSP00000343764.6:p.Val17207=
ENST00000359218.9:c.32505C>T (TTN) ENSP00000352154.5:p.Val10835=
ENST00000460472.6:c.32130C>T (TTN) ENSP00000434586.1:p.Val10710=
ENST00000589042.5:c.59325C>T (TTN) MANE Select ENSP00000467141.1:p.Val19775=
ENST00000591111.5:c.54402C>T (TTN) ENSP00000465570.1:p.Val18134=
ENST00000615779.4:c.54402C>T (TTN) ENSP00000483597.1:p.Val18134=
NM_001256850.1:c.54402C>T (TTN) NP_001243779.1:p.Val18134=
NM_001267550.2:c.59325C>T (TTN) MANE Select NP_001254479.2:p.Val19775=
NM_003319.4:c.32130C>T (TTN) NP_003310.4:p.Val10710=
NM_133378.4:c.51621C>T (TTN) NP_596869.4:p.Val17207=
NM_133432.3:c.32505C>T (TTN) NP_597676.3:p.Val10835=
NM_133437.4:c.32706C>T (TTN) NP_597681.4:p.Val10902=
NR_038271.1:n.597-4802G>A (TTN-AS1)
NR_038272.1:n.3364+1480G>A (TTN-AS1)
XM_011511729.1:c.58422C>T (TTN) XP_011510031.1:p.Val19474=
XM_011511730.1:c.32316C>T (TTN) XP_011510032.1:p.Val10772=
XM_011511731.1:c.32175C>T (TTN) XP_011510033.1:p.Val10725=
XM_017004819.1:c.58218C>T (TTN) XP_016860308.1:p.Val19406=
XM_017004820.1:c.53616C>T (TTN) XP_016860309.1:p.Val17872=
XM_017004821.1:c.53613C>T (TTN) XP_016860310.1:p.Val17871=
XM_017004822.1:c.50655C>T (TTN) XP_016860311.1:p.Val16885=
XM_017004823.1:c.32271C>T (TTN) XP_016860312.1:p.Val10757=
XM_024453094.1:c.53766C>T (TTN) XP_024308862.1:p.Val17922=
XM_024453095.1:c.53763C>T (TTN) XP_024308863.1:p.Val17921=
XM_024453096.1:c.53196C>T (TTN) XP_024308864.1:p.Val17732=
XM_024453097.1:c.50538C>T (TTN) XP_024308865.1:p.Val16846=
XM_024453098.1:c.50457C>T (TTN) XP_024308866.1:p.Val16819=
XM_024453099.1:c.32220C>T (TTN) XP_024308867.1:p.Val10740=
XM_024453100.1:c.22074C>T (TTN) XP_024308868.1:p.Val7358=