Canonical Allele Identifier: CA430241652

Linked Data

MyVariant Identifiers: chr2:g.179408646A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543919A>G , CM000664.2:g.178543919A>G GRCh38
NC_000002.11:g.179408646A>G , CM000664.1:g.179408646A>G GRCh37
NC_000002.10:g.179116892A>G NCBI36
NG_011618.3:g.291884T>C , LRG_391:g.291884T>C
NG_051363.1:g.26093A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88521T>C (TTN) ENSP00000343764.6:p.Val29507=
ENST00000342175.11:c.69606T>C (TTN) ENSP00000340554.6:p.Val23202=
ENST00000359218.10:c.69405T>C (TTN) ENSP00000352154.5:p.Val23135=
ENST00000342175.10:c.69606T>C (TTN) ENSP00000340554.6:p.Val23202=
ENST00000342992.10:c.88521T>C (TTN) ENSP00000343764.6:p.Val29507=
ENST00000359218.9:c.69405T>C (TTN) ENSP00000352154.5:p.Val23135=
ENST00000460472.6:c.69030T>C (TTN) ENSP00000434586.1:p.Val23010=
ENST00000589042.5:c.96225T>C (TTN) MANE Select ENSP00000467141.1:p.Val32075=
ENST00000591111.5:c.91302T>C (TTN) ENSP00000465570.1:p.Val30434=
ENST00000615779.4:c.91302T>C (TTN) ENSP00000483597.1:p.Val30434=
NM_001256850.1:c.91302T>C (TTN) NP_001243779.1:p.Val30434=
NM_001267550.2:c.96225T>C (TTN) MANE Select NP_001254479.2:p.Val32075=
NM_003319.4:c.69030T>C (TTN) NP_003310.4:p.Val23010=
NM_133378.4:c.88521T>C (TTN) NP_596869.4:p.Val29507=
NM_133432.3:c.69405T>C (TTN) NP_597676.3:p.Val23135=
NM_133437.4:c.69606T>C (TTN) NP_597681.4:p.Val23202=
NR_038271.1:n.446+20283A>G (TTN-AS1)
NR_038272.1:n.2043+1558A>G (TTN-AS1)
XM_011511729.1:c.95322T>C (TTN) XP_011510031.1:p.Val31774=
XM_011511730.1:c.69216T>C (TTN) XP_011510032.1:p.Val23072=
XM_011511731.1:c.69075T>C (TTN) XP_011510033.1:p.Val23025=
XM_017004819.1:c.95118T>C (TTN) XP_016860308.1:p.Val31706=
XM_017004820.1:c.90516T>C (TTN) XP_016860309.1:p.Val30172=
XM_017004821.1:c.90513T>C (TTN) XP_016860310.1:p.Val30171=
XM_017004822.1:c.87555T>C (TTN) XP_016860311.1:p.Val29185=
XM_017004823.1:c.69171T>C (TTN) XP_016860312.1:p.Val23057=
XM_024453094.1:c.90666T>C (TTN) XP_024308862.1:p.Val30222=
XM_024453095.1:c.90663T>C (TTN) XP_024308863.1:p.Val30221=
XM_024453096.1:c.90096T>C (TTN) XP_024308864.1:p.Val30032=
XM_024453097.1:c.87438T>C (TTN) XP_024308865.1:p.Val29146=
XM_024453098.1:c.87357T>C (TTN) XP_024308866.1:p.Val29119=
XM_024453099.1:c.69120T>C (TTN) XP_024308867.1:p.Val23040=
XM_024453100.1:c.58974T>C (TTN) XP_024308868.1:p.Val19658=