Canonical Allele Identifier: CA430237941

Linked Data

MyVariant Identifiers: chr2:g.179398790T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534063T>C , CM000664.2:g.178534063T>C GRCh38
NC_000002.11:g.179398790T>C , CM000664.1:g.179398790T>C GRCh37
NC_000002.10:g.179107036T>C NCBI36
NG_011618.3:g.301740A>G , LRG_391:g.301740A>G
NG_051363.1:g.16237T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94848A>G (TTN) ENSP00000343764.6:p.Glu31616=
ENST00000342175.11:c.75933A>G (TTN) ENSP00000340554.6:p.Glu25311=
ENST00000359218.10:c.75732A>G (TTN) ENSP00000352154.5:p.Glu25244=
ENST00000342175.10:c.75933A>G (TTN) ENSP00000340554.6:p.Glu25311=
ENST00000342992.10:c.94848A>G (TTN) ENSP00000343764.6:p.Glu31616=
ENST00000359218.9:c.75732A>G (TTN) ENSP00000352154.5:p.Glu25244=
ENST00000460472.6:c.75357A>G (TTN) ENSP00000434586.1:p.Glu25119=
ENST00000589042.5:c.102552A>G (TTN) MANE Select ENSP00000467141.1:p.Glu34184=
ENST00000591111.5:c.97629A>G (TTN) ENSP00000465570.1:p.Glu32543=
ENST00000615779.4:c.97629A>G (TTN) ENSP00000483597.1:p.Glu32543=
NM_001256850.1:c.97629A>G (TTN) NP_001243779.1:p.Glu32543=
NM_001267550.2:c.102552A>G (TTN) MANE Select NP_001254479.2:p.Glu34184=
NM_003319.4:c.75357A>G (TTN) NP_003310.4:p.Glu25119=
NM_133378.4:c.94848A>G (TTN) NP_596869.4:p.Glu31616=
NM_133432.3:c.75732A>G (TTN) NP_597676.3:p.Glu25244=
NM_133437.4:c.75933A>G (TTN) NP_597681.4:p.Glu25311=
NR_038271.1:n.446+10427T>C (TTN-AS1)
NR_038272.1:n.220-1669T>C (TTN-AS1)
XM_011511729.1:c.101649A>G (TTN) XP_011510031.1:p.Glu33883=
XM_011511730.1:c.75543A>G (TTN) XP_011510032.1:p.Glu25181=
XM_011511731.1:c.75402A>G (TTN) XP_011510033.1:p.Glu25134=
XM_017004819.1:c.101445A>G (TTN) XP_016860308.1:p.Glu33815=
XM_017004820.1:c.96843A>G (TTN) XP_016860309.1:p.Glu32281=
XM_017004821.1:c.96840A>G (TTN) XP_016860310.1:p.Glu32280=
XM_017004822.1:c.93882A>G (TTN) XP_016860311.1:p.Glu31294=
XM_017004823.1:c.75498A>G (TTN) XP_016860312.1:p.Glu25166=
XM_024453094.1:c.96993A>G (TTN) XP_024308862.1:p.Glu32331=
XM_024453095.1:c.96990A>G (TTN) XP_024308863.1:p.Glu32330=
XM_024453096.1:c.96423A>G (TTN) XP_024308864.1:p.Glu32141=
XM_024453097.1:c.93765A>G (TTN) XP_024308865.1:p.Glu31255=
XM_024453098.1:c.93684A>G (TTN) XP_024308866.1:p.Glu31228=
XM_024453099.1:c.75447A>G (TTN) XP_024308867.1:p.Glu25149=
XM_024453100.1:c.65301A>G (TTN) XP_024308868.1:p.Glu21767=