Canonical Allele Identifier: CA430235953

Linked Data

MyVariant Identifiers: chr2:g.179396984G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532257G>A , CM000664.2:g.178532257G>A GRCh38
NC_000002.11:g.179396984G>A , CM000664.1:g.179396984G>A GRCh37
NC_000002.10:g.179105230G>A NCBI36
NG_011618.3:g.303546C>T , LRG_391:g.303546C>T
NG_051363.1:g.14431G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96654C>T (TTN) ENSP00000343764.6:p.Tyr32218=
ENST00000342175.11:c.77739C>T (TTN) ENSP00000340554.6:p.Tyr25913=
ENST00000359218.10:c.77538C>T (TTN) ENSP00000352154.5:p.Tyr25846=
ENST00000342175.10:c.77739C>T (TTN) ENSP00000340554.6:p.Tyr25913=
ENST00000342992.10:c.96654C>T (TTN) ENSP00000343764.6:p.Tyr32218=
ENST00000359218.9:c.77538C>T (TTN) ENSP00000352154.5:p.Tyr25846=
ENST00000460472.6:c.77163C>T (TTN) ENSP00000434586.1:p.Tyr25721=
ENST00000589042.5:c.104358C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr34786=
ENST00000591111.5:c.99435C>T (TTN) ENSP00000465570.1:p.Tyr33145=
ENST00000615779.4:c.99435C>T (TTN) ENSP00000483597.1:p.Tyr33145=
NM_001256850.1:c.99435C>T (TTN) NP_001243779.1:p.Tyr33145=
NM_001267550.2:c.104358C>T (TTN) MANE Select NP_001254479.2:p.Tyr34786=
NM_003319.4:c.77163C>T (TTN) NP_003310.4:p.Tyr25721=
NM_133378.4:c.96654C>T (TTN) NP_596869.4:p.Tyr32218=
NM_133432.3:c.77538C>T (TTN) NP_597676.3:p.Tyr25846=
NM_133437.4:c.77739C>T (TTN) NP_597681.4:p.Tyr25913=
NR_038271.1:n.446+8621G>A (TTN-AS1)
NR_038272.1:n.220-3475G>A (TTN-AS1)
XM_011511729.1:c.103455C>T (TTN) XP_011510031.1:p.Tyr34485=
XM_011511730.1:c.77349C>T (TTN) XP_011510032.1:p.Tyr25783=
XM_011511731.1:c.77208C>T (TTN) XP_011510033.1:p.Tyr25736=
XM_017004819.1:c.103251C>T (TTN) XP_016860308.1:p.Tyr34417=
XM_017004820.1:c.98649C>T (TTN) XP_016860309.1:p.Tyr32883=
XM_017004821.1:c.98646C>T (TTN) XP_016860310.1:p.Tyr32882=
XM_017004822.1:c.95688C>T (TTN) XP_016860311.1:p.Tyr31896=
XM_017004823.1:c.77304C>T (TTN) XP_016860312.1:p.Tyr25768=
XM_024453094.1:c.98799C>T (TTN) XP_024308862.1:p.Tyr32933=
XM_024453095.1:c.98796C>T (TTN) XP_024308863.1:p.Tyr32932=
XM_024453096.1:c.98229C>T (TTN) XP_024308864.1:p.Tyr32743=
XM_024453097.1:c.95571C>T (TTN) XP_024308865.1:p.Tyr31857=
XM_024453098.1:c.95490C>T (TTN) XP_024308866.1:p.Tyr31830=
XM_024453099.1:c.77253C>T (TTN) XP_024308867.1:p.Tyr25751=
XM_024453100.1:c.67107C>T (TTN) XP_024308868.1:p.Tyr22369=