Canonical Allele Identifier: CA430235521

Linked Data

MyVariant Identifiers: chr2:g.179396597T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178531870T>C , CM000664.2:g.178531870T>C GRCh38
NC_000002.11:g.179396597T>C , CM000664.1:g.179396597T>C GRCh37
NC_000002.10:g.179104843T>C NCBI36
NG_011618.3:g.303933A>G , LRG_391:g.303933A>G
NG_051363.1:g.14044T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.97041A>G (TTN) ENSP00000343764.6:p.Lys32347=
ENST00000342175.11:c.78126A>G (TTN) ENSP00000340554.6:p.Lys26042=
ENST00000359218.10:c.77925A>G (TTN) ENSP00000352154.5:p.Lys25975=
ENST00000342175.10:c.78126A>G (TTN) ENSP00000340554.6:p.Lys26042=
ENST00000342992.10:c.97041A>G (TTN) ENSP00000343764.6:p.Lys32347=
ENST00000359218.9:c.77925A>G (TTN) ENSP00000352154.5:p.Lys25975=
ENST00000460472.6:c.77550A>G (TTN) ENSP00000434586.1:p.Lys25850=
ENST00000589042.5:c.104745A>G (TTN) MANE Select ENSP00000467141.1:p.Lys34915=
ENST00000591111.5:c.99822A>G (TTN) ENSP00000465570.1:p.Lys33274=
ENST00000615779.4:c.99822A>G (TTN) ENSP00000483597.1:p.Lys33274=
NM_001256850.1:c.99822A>G (TTN) NP_001243779.1:p.Lys33274=
NM_001267550.2:c.104745A>G (TTN) MANE Select NP_001254479.2:p.Lys34915=
NM_003319.4:c.77550A>G (TTN) NP_003310.4:p.Lys25850=
NM_133378.4:c.97041A>G (TTN) NP_596869.4:p.Lys32347=
NM_133432.3:c.77925A>G (TTN) NP_597676.3:p.Lys25975=
NM_133437.4:c.78126A>G (TTN) NP_597681.4:p.Lys26042=
NR_038271.1:n.446+8234T>C (TTN-AS1)
NR_038272.1:n.220-3862T>C (TTN-AS1)
XM_011511729.1:c.103842A>G (TTN) XP_011510031.1:p.Lys34614=
XM_011511730.1:c.77736A>G (TTN) XP_011510032.1:p.Lys25912=
XM_011511731.1:c.77595A>G (TTN) XP_011510033.1:p.Lys25865=
XM_017004819.1:c.103638A>G (TTN) XP_016860308.1:p.Lys34546=
XM_017004820.1:c.99036A>G (TTN) XP_016860309.1:p.Lys33012=
XM_017004821.1:c.99033A>G (TTN) XP_016860310.1:p.Lys33011=
XM_017004822.1:c.96075A>G (TTN) XP_016860311.1:p.Lys32025=
XM_017004823.1:c.77691A>G (TTN) XP_016860312.1:p.Lys25897=
XM_024453094.1:c.99186A>G (TTN) XP_024308862.1:p.Lys33062=
XM_024453095.1:c.99183A>G (TTN) XP_024308863.1:p.Lys33061=
XM_024453096.1:c.98616A>G (TTN) XP_024308864.1:p.Lys32872=
XM_024453097.1:c.95958A>G (TTN) XP_024308865.1:p.Lys31986=
XM_024453098.1:c.95877A>G (TTN) XP_024308866.1:p.Lys31959=
XM_024453099.1:c.77640A>G (TTN) XP_024308867.1:p.Lys25880=
XM_024453100.1:c.67494A>G (TTN) XP_024308868.1:p.Lys22498=