Canonical Allele Identifier: CA430108412

Linked Data

MyVariant Identifiers: chr2:g.179483510C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618783C>G , CM000664.2:g.178618783C>G GRCh38
NC_000002.11:g.179483510C>G , CM000664.1:g.179483510C>G GRCh37
NC_000002.10:g.179191755C>G NCBI36
NG_011618.3:g.217020G>C , LRG_391:g.217020G>C
NG_051363.1:g.100957C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39063G>C (TTN) ENSP00000343764.6:p.Val13021=
ENST00000342175.11:c.20148G>C (TTN) ENSP00000340554.6:p.Val6716=
ENST00000359218.10:c.19947G>C (TTN) ENSP00000352154.5:p.Val6649=
ENST00000342175.10:c.20148G>C (TTN) ENSP00000340554.6:p.Val6716=
ENST00000342992.10:c.39063G>C (TTN) ENSP00000343764.6:p.Val13021=
ENST00000359218.9:c.19947G>C (TTN) ENSP00000352154.5:p.Val6649=
ENST00000460472.6:c.19572G>C (TTN) ENSP00000434586.1:p.Val6524=
ENST00000589042.5:c.46767G>C (TTN) MANE Select ENSP00000467141.1:p.Val15589=
ENST00000591111.5:c.41844G>C (TTN) ENSP00000465570.1:p.Val13948=
ENST00000615779.4:c.41844G>C (TTN) ENSP00000483597.1:p.Val13948=
NM_001256850.1:c.41844G>C (TTN) NP_001243779.1:p.Val13948=
NM_001267550.2:c.46767G>C (TTN) MANE Select NP_001254479.2:p.Val15589=
NM_003319.4:c.19572G>C (TTN) NP_003310.4:p.Val6524=
NM_133378.4:c.39063G>C (TTN) NP_596869.4:p.Val13021=
NM_133432.3:c.19947G>C (TTN) NP_597676.3:p.Val6649=
NM_133437.4:c.20148G>C (TTN) NP_597681.4:p.Val6716=
NR_038271.1:n.1605-970C>G (TTN-AS1)
XM_011511729.1:c.45864G>C (TTN) XP_011510031.1:p.Val15288=
XM_011511730.1:c.19758G>C (TTN) XP_011510032.1:p.Val6586=
XM_011511731.1:c.19617G>C (TTN) XP_011510033.1:p.Val6539=
XM_017004819.1:c.45660G>C (TTN) XP_016860308.1:p.Val15220=
XM_017004820.1:c.41058G>C (TTN) XP_016860309.1:p.Val13686=
XM_017004821.1:c.41055G>C (TTN) XP_016860310.1:p.Val13685=
XM_017004822.1:c.38097G>C (TTN) XP_016860311.1:p.Val12699=
XM_017004823.1:c.19713G>C (TTN) XP_016860312.1:p.Val6571=
XM_024453094.1:c.41208G>C (TTN) XP_024308862.1:p.Val13736=
XM_024453095.1:c.41205G>C (TTN) XP_024308863.1:p.Val13735=
XM_024453096.1:c.40638G>C (TTN) XP_024308864.1:p.Val13546=
XM_024453097.1:c.37980G>C (TTN) XP_024308865.1:p.Val12660=
XM_024453098.1:c.37899G>C (TTN) XP_024308866.1:p.Val12633=
XM_024453099.1:c.19662G>C (TTN) XP_024308867.1:p.Val6554=
XM_024453100.1:c.9516G>C (TTN) XP_024308868.1:p.Val3172=