Canonical Allele Identifier: CA430241890

Linked Data

MyVariant Identifiers: chr2:g.179409121A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544394A>C , CM000664.2:g.178544394A>C GRCh38
NC_000002.11:g.179409121A>C , CM000664.1:g.179409121A>C GRCh37
NC_000002.10:g.179117367A>C NCBI36
NG_011618.3:g.291409T>G , LRG_391:g.291409T>G
NG_051363.1:g.26568A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88131T>G (TTN) ENSP00000343764.6:p.Val29377=
ENST00000342175.11:c.69216T>G (TTN) ENSP00000340554.6:p.Val23072=
ENST00000359218.10:c.69015T>G (TTN) ENSP00000352154.5:p.Val23005=
ENST00000342175.10:c.69216T>G (TTN) ENSP00000340554.6:p.Val23072=
ENST00000342992.10:c.88131T>G (TTN) ENSP00000343764.6:p.Val29377=
ENST00000359218.9:c.69015T>G (TTN) ENSP00000352154.5:p.Val23005=
ENST00000460472.6:c.68640T>G (TTN) ENSP00000434586.1:p.Val22880=
ENST00000589042.5:c.95835T>G (TTN) MANE Select ENSP00000467141.1:p.Val31945=
ENST00000591111.5:c.90912T>G (TTN) ENSP00000465570.1:p.Val30304=
ENST00000615779.4:c.90912T>G (TTN) ENSP00000483597.1:p.Val30304=
NM_001256850.1:c.90912T>G (TTN) NP_001243779.1:p.Val30304=
NM_001267550.2:c.95835T>G (TTN) MANE Select NP_001254479.2:p.Val31945=
NM_003319.4:c.68640T>G (TTN) NP_003310.4:p.Val22880=
NM_133378.4:c.88131T>G (TTN) NP_596869.4:p.Val29377=
NM_133432.3:c.69015T>G (TTN) NP_597676.3:p.Val23005=
NM_133437.4:c.69216T>G (TTN) NP_597681.4:p.Val23072=
NR_038271.1:n.446+20758A>C (TTN-AS1)
NR_038272.1:n.2043+2033A>C (TTN-AS1)
XM_011511729.1:c.94932T>G (TTN) XP_011510031.1:p.Val31644=
XM_011511730.1:c.68826T>G (TTN) XP_011510032.1:p.Val22942=
XM_011511731.1:c.68685T>G (TTN) XP_011510033.1:p.Val22895=
XM_017004819.1:c.94728T>G (TTN) XP_016860308.1:p.Val31576=
XM_017004820.1:c.90126T>G (TTN) XP_016860309.1:p.Val30042=
XM_017004821.1:c.90123T>G (TTN) XP_016860310.1:p.Val30041=
XM_017004822.1:c.87165T>G (TTN) XP_016860311.1:p.Val29055=
XM_017004823.1:c.68781T>G (TTN) XP_016860312.1:p.Val22927=
XM_024453094.1:c.90276T>G (TTN) XP_024308862.1:p.Val30092=
XM_024453095.1:c.90273T>G (TTN) XP_024308863.1:p.Val30091=
XM_024453096.1:c.89706T>G (TTN) XP_024308864.1:p.Val29902=
XM_024453097.1:c.87048T>G (TTN) XP_024308865.1:p.Val29016=
XM_024453098.1:c.86967T>G (TTN) XP_024308866.1:p.Val28989=
XM_024453099.1:c.68730T>G (TTN) XP_024308867.1:p.Val22910=
XM_024453100.1:c.58584T>G (TTN) XP_024308868.1:p.Val19528=