Canonical Allele Identifier: CA430256905

Linked Data

MyVariant Identifiers: chr2:g.179438703A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573976A>G , CM000664.2:g.178573976A>G GRCh38
NC_000002.11:g.179438703A>G , CM000664.1:g.179438703A>G GRCh37
NC_000002.10:g.179146949A>G NCBI36
NG_011618.3:g.261827T>C , LRG_391:g.261827T>C
NG_051363.1:g.56150A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64452T>C (TTN) ENSP00000343764.6:p.Asp21484=
ENST00000342175.11:c.45537T>C (TTN) ENSP00000340554.6:p.Asp15179=
ENST00000359218.10:c.45336T>C (TTN) ENSP00000352154.5:p.Asp15112=
ENST00000342175.10:c.45537T>C (TTN) ENSP00000340554.6:p.Asp15179=
ENST00000342992.10:c.64452T>C (TTN) ENSP00000343764.6:p.Asp21484=
ENST00000359218.9:c.45336T>C (TTN) ENSP00000352154.5:p.Asp15112=
ENST00000460472.6:c.44961T>C (TTN) ENSP00000434586.1:p.Asp14987=
ENST00000589042.5:c.72156T>C (TTN) MANE Select ENSP00000467141.1:p.Asp24052=
ENST00000591111.5:c.67233T>C (TTN) ENSP00000465570.1:p.Asp22411=
ENST00000615779.4:c.67233T>C (TTN) ENSP00000483597.1:p.Asp22411=
NM_001256850.1:c.67233T>C (TTN) NP_001243779.1:p.Asp22411=
NM_001267550.2:c.72156T>C (TTN) MANE Select NP_001254479.2:p.Asp24052=
NM_003319.4:c.44961T>C (TTN) NP_003310.4:p.Asp14987=
NM_133378.4:c.64452T>C (TTN) NP_596869.4:p.Asp21484=
NM_133432.3:c.45336T>C (TTN) NP_597676.3:p.Asp15112=
NM_133437.4:c.45537T>C (TTN) NP_597681.4:p.Asp15179=
NR_038271.1:n.596+2527A>G (TTN-AS1)
NR_038272.1:n.2044-8596A>G (TTN-AS1)
XM_011511729.1:c.71253T>C (TTN) XP_011510031.1:p.Asp23751=
XM_011511730.1:c.45147T>C (TTN) XP_011510032.1:p.Asp15049=
XM_011511731.1:c.45006T>C (TTN) XP_011510033.1:p.Asp15002=
XM_017004819.1:c.71049T>C (TTN) XP_016860308.1:p.Asp23683=
XM_017004820.1:c.66447T>C (TTN) XP_016860309.1:p.Asp22149=
XM_017004821.1:c.66444T>C (TTN) XP_016860310.1:p.Asp22148=
XM_017004822.1:c.63486T>C (TTN) XP_016860311.1:p.Asp21162=
XM_017004823.1:c.45102T>C (TTN) XP_016860312.1:p.Asp15034=
XM_024453094.1:c.66597T>C (TTN) XP_024308862.1:p.Asp22199=
XM_024453095.1:c.66594T>C (TTN) XP_024308863.1:p.Asp22198=
XM_024453096.1:c.66027T>C (TTN) XP_024308864.1:p.Asp22009=
XM_024453097.1:c.63369T>C (TTN) XP_024308865.1:p.Asp21123=
XM_024453098.1:c.63288T>C (TTN) XP_024308866.1:p.Asp21096=
XM_024453099.1:c.45051T>C (TTN) XP_024308867.1:p.Asp15017=
XM_024453100.1:c.34905T>C (TTN) XP_024308868.1:p.Asp11635=