Canonical Allele Identifier: CA430241566

Linked Data

MyVariant Identifiers: chr2:g.179409001A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544274A>C , CM000664.2:g.178544274A>C GRCh38
NC_000002.11:g.179409001A>C , CM000664.1:g.179409001A>C GRCh37
NC_000002.10:g.179117247A>C NCBI36
NG_011618.3:g.291529T>G , LRG_391:g.291529T>G
NG_051363.1:g.26448A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88251T>G (TTN) ENSP00000343764.6:p.Val29417=
ENST00000342175.11:c.69336T>G (TTN) ENSP00000340554.6:p.Val23112=
ENST00000359218.10:c.69135T>G (TTN) ENSP00000352154.5:p.Val23045=
ENST00000342175.10:c.69336T>G (TTN) ENSP00000340554.6:p.Val23112=
ENST00000342992.10:c.88251T>G (TTN) ENSP00000343764.6:p.Val29417=
ENST00000359218.9:c.69135T>G (TTN) ENSP00000352154.5:p.Val23045=
ENST00000460472.6:c.68760T>G (TTN) ENSP00000434586.1:p.Val22920=
ENST00000589042.5:c.95955T>G (TTN) MANE Select ENSP00000467141.1:p.Val31985=
ENST00000591111.5:c.91032T>G (TTN) ENSP00000465570.1:p.Val30344=
ENST00000615779.4:c.91032T>G (TTN) ENSP00000483597.1:p.Val30344=
NM_001256850.1:c.91032T>G (TTN) NP_001243779.1:p.Val30344=
NM_001267550.2:c.95955T>G (TTN) MANE Select NP_001254479.2:p.Val31985=
NM_003319.4:c.68760T>G (TTN) NP_003310.4:p.Val22920=
NM_133378.4:c.88251T>G (TTN) NP_596869.4:p.Val29417=
NM_133432.3:c.69135T>G (TTN) NP_597676.3:p.Val23045=
NM_133437.4:c.69336T>G (TTN) NP_597681.4:p.Val23112=
NR_038271.1:n.446+20638A>C (TTN-AS1)
NR_038272.1:n.2043+1913A>C (TTN-AS1)
XM_011511729.1:c.95052T>G (TTN) XP_011510031.1:p.Val31684=
XM_011511730.1:c.68946T>G (TTN) XP_011510032.1:p.Val22982=
XM_011511731.1:c.68805T>G (TTN) XP_011510033.1:p.Val22935=
XM_017004819.1:c.94848T>G (TTN) XP_016860308.1:p.Val31616=
XM_017004820.1:c.90246T>G (TTN) XP_016860309.1:p.Val30082=
XM_017004821.1:c.90243T>G (TTN) XP_016860310.1:p.Val30081=
XM_017004822.1:c.87285T>G (TTN) XP_016860311.1:p.Val29095=
XM_017004823.1:c.68901T>G (TTN) XP_016860312.1:p.Val22967=
XM_024453094.1:c.90396T>G (TTN) XP_024308862.1:p.Val30132=
XM_024453095.1:c.90393T>G (TTN) XP_024308863.1:p.Val30131=
XM_024453096.1:c.89826T>G (TTN) XP_024308864.1:p.Val29942=
XM_024453097.1:c.87168T>G (TTN) XP_024308865.1:p.Val29056=
XM_024453098.1:c.87087T>G (TTN) XP_024308866.1:p.Val29029=
XM_024453099.1:c.68850T>G (TTN) XP_024308867.1:p.Val22950=
XM_024453100.1:c.58704T>G (TTN) XP_024308868.1:p.Val19568=