Canonical Allele Identifier: CA430235673

Linked Data

MyVariant Identifiers: chr2:g.179395373G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530646G>A , CM000664.2:g.178530646G>A GRCh38
NC_000002.11:g.179395373G>A , CM000664.1:g.179395373G>A GRCh37
NC_000002.10:g.179103619G>A NCBI36
NG_011618.3:g.305157C>T , LRG_391:g.305157C>T
NG_051363.1:g.12820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98265C>T (TTN) ENSP00000343764.6:p.Gly32755=
ENST00000342175.11:c.79350C>T (TTN) ENSP00000340554.6:p.Gly26450=
ENST00000359218.10:c.79149C>T (TTN) ENSP00000352154.5:p.Gly26383=
ENST00000342175.10:c.79350C>T (TTN) ENSP00000340554.6:p.Gly26450=
ENST00000342992.10:c.98265C>T (TTN) ENSP00000343764.6:p.Gly32755=
ENST00000359218.9:c.79149C>T (TTN) ENSP00000352154.5:p.Gly26383=
ENST00000460472.6:c.78774C>T (TTN) ENSP00000434586.1:p.Gly26258=
ENST00000589042.5:c.105969C>T (TTN) MANE Select ENSP00000467141.1:p.Gly35323=
ENST00000591111.5:c.101046C>T (TTN) ENSP00000465570.1:p.Gly33682=
ENST00000615779.4:c.101046C>T (TTN) ENSP00000483597.1:p.Gly33682=
NM_001256850.1:c.101046C>T (TTN) NP_001243779.1:p.Gly33682=
NM_001267550.2:c.105969C>T (TTN) MANE Select NP_001254479.2:p.Gly35323=
NM_003319.4:c.78774C>T (TTN) NP_003310.4:p.Gly26258=
NM_133378.4:c.98265C>T (TTN) NP_596869.4:p.Gly32755=
NM_133432.3:c.79149C>T (TTN) NP_597676.3:p.Gly26383=
NM_133437.4:c.79350C>T (TTN) NP_597681.4:p.Gly26450=
NR_038271.1:n.446+7010G>A (TTN-AS1)
NR_038272.1:n.220-5086G>A (TTN-AS1)
XM_011511729.1:c.105066C>T (TTN) XP_011510031.1:p.Gly35022=
XM_011511730.1:c.78960C>T (TTN) XP_011510032.1:p.Gly26320=
XM_011511731.1:c.78819C>T (TTN) XP_011510033.1:p.Gly26273=
XM_017004819.1:c.104862C>T (TTN) XP_016860308.1:p.Gly34954=
XM_017004820.1:c.100260C>T (TTN) XP_016860309.1:p.Gly33420=
XM_017004821.1:c.100257C>T (TTN) XP_016860310.1:p.Gly33419=
XM_017004822.1:c.97299C>T (TTN) XP_016860311.1:p.Gly32433=
XM_017004823.1:c.78915C>T (TTN) XP_016860312.1:p.Gly26305=
XM_024453094.1:c.100410C>T (TTN) XP_024308862.1:p.Gly33470=
XM_024453095.1:c.100407C>T (TTN) XP_024308863.1:p.Gly33469=
XM_024453096.1:c.99840C>T (TTN) XP_024308864.1:p.Gly33280=
XM_024453097.1:c.97182C>T (TTN) XP_024308865.1:p.Gly32394=
XM_024453098.1:c.97101C>T (TTN) XP_024308866.1:p.Gly32367=
XM_024453099.1:c.78864C>T (TTN) XP_024308867.1:p.Gly26288=
XM_024453100.1:c.68718C>T (TTN) XP_024308868.1:p.Gly22906=