Canonical Allele Identifier: CA430235638

Linked Data

MyVariant Identifiers: chr2:g.179395364C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530637C>A , CM000664.2:g.178530637C>A GRCh38
NC_000002.11:g.179395364C>A , CM000664.1:g.179395364C>A GRCh37
NC_000002.10:g.179103610C>A NCBI36
NG_011618.3:g.305166G>T , LRG_391:g.305166G>T
NG_051363.1:g.12811C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98274G>T (TTN) ENSP00000343764.6:p.Leu32758=
ENST00000342175.11:c.79359G>T (TTN) ENSP00000340554.6:p.Leu26453=
ENST00000359218.10:c.79158G>T (TTN) ENSP00000352154.5:p.Leu26386=
ENST00000342175.10:c.79359G>T (TTN) ENSP00000340554.6:p.Leu26453=
ENST00000342992.10:c.98274G>T (TTN) ENSP00000343764.6:p.Leu32758=
ENST00000359218.9:c.79158G>T (TTN) ENSP00000352154.5:p.Leu26386=
ENST00000460472.6:c.78783G>T (TTN) ENSP00000434586.1:p.Leu26261=
ENST00000589042.5:c.105978G>T (TTN) MANE Select ENSP00000467141.1:p.Leu35326=
ENST00000591111.5:c.101055G>T (TTN) ENSP00000465570.1:p.Leu33685=
ENST00000615779.4:c.101055G>T (TTN) ENSP00000483597.1:p.Leu33685=
NM_001256850.1:c.101055G>T (TTN) NP_001243779.1:p.Leu33685=
NM_001267550.2:c.105978G>T (TTN) MANE Select NP_001254479.2:p.Leu35326=
NM_003319.4:c.78783G>T (TTN) NP_003310.4:p.Leu26261=
NM_133378.4:c.98274G>T (TTN) NP_596869.4:p.Leu32758=
NM_133432.3:c.79158G>T (TTN) NP_597676.3:p.Leu26386=
NM_133437.4:c.79359G>T (TTN) NP_597681.4:p.Leu26453=
NR_038271.1:n.446+7001C>A (TTN-AS1)
NR_038272.1:n.220-5095C>A (TTN-AS1)
XM_011511729.1:c.105075G>T (TTN) XP_011510031.1:p.Leu35025=
XM_011511730.1:c.78969G>T (TTN) XP_011510032.1:p.Leu26323=
XM_011511731.1:c.78828G>T (TTN) XP_011510033.1:p.Leu26276=
XM_017004819.1:c.104871G>T (TTN) XP_016860308.1:p.Leu34957=
XM_017004820.1:c.100269G>T (TTN) XP_016860309.1:p.Leu33423=
XM_017004821.1:c.100266G>T (TTN) XP_016860310.1:p.Leu33422=
XM_017004822.1:c.97308G>T (TTN) XP_016860311.1:p.Leu32436=
XM_017004823.1:c.78924G>T (TTN) XP_016860312.1:p.Leu26308=
XM_024453094.1:c.100419G>T (TTN) XP_024308862.1:p.Leu33473=
XM_024453095.1:c.100416G>T (TTN) XP_024308863.1:p.Leu33472=
XM_024453096.1:c.99849G>T (TTN) XP_024308864.1:p.Leu33283=
XM_024453097.1:c.97191G>T (TTN) XP_024308865.1:p.Leu32397=
XM_024453098.1:c.97110G>T (TTN) XP_024308866.1:p.Leu32370=
XM_024453099.1:c.78873G>T (TTN) XP_024308867.1:p.Leu26291=
XM_024453100.1:c.68727G>T (TTN) XP_024308868.1:p.Leu22909=