Canonical Allele Identifier: CA430241956

Linked Data

dbSNP Id: rs1696066789
MyVariant Identifiers: chr2:g.179409142A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544415A>G , CM000664.2:g.178544415A>G GRCh38
NC_000002.11:g.179409142A>G , CM000664.1:g.179409142A>G GRCh37
NC_000002.10:g.179117388A>G NCBI36
NG_011618.3:g.291388T>C , LRG_391:g.291388T>C
NG_051363.1:g.26589A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88110T>C (TTN) ENSP00000343764.6:p.Gly29370=
ENST00000342175.11:c.69195T>C (TTN) ENSP00000340554.6:p.Gly23065=
ENST00000359218.10:c.68994T>C (TTN) ENSP00000352154.5:p.Gly22998=
ENST00000342175.10:c.69195T>C (TTN) ENSP00000340554.6:p.Gly23065=
ENST00000342992.10:c.88110T>C (TTN) ENSP00000343764.6:p.Gly29370=
ENST00000359218.9:c.68994T>C (TTN) ENSP00000352154.5:p.Gly22998=
ENST00000460472.6:c.68619T>C (TTN) ENSP00000434586.1:p.Gly22873=
ENST00000589042.5:c.95814T>C (TTN) MANE Select ENSP00000467141.1:p.Gly31938=
ENST00000591111.5:c.90891T>C (TTN) ENSP00000465570.1:p.Gly30297=
ENST00000615779.4:c.90891T>C (TTN) ENSP00000483597.1:p.Gly30297=
NM_001256850.1:c.90891T>C (TTN) NP_001243779.1:p.Gly30297=
NM_001267550.2:c.95814T>C (TTN) MANE Select NP_001254479.2:p.Gly31938=
NM_003319.4:c.68619T>C (TTN) NP_003310.4:p.Gly22873=
NM_133378.4:c.88110T>C (TTN) NP_596869.4:p.Gly29370=
NM_133432.3:c.68994T>C (TTN) NP_597676.3:p.Gly22998=
NM_133437.4:c.69195T>C (TTN) NP_597681.4:p.Gly23065=
NR_038271.1:n.446+20779A>G (TTN-AS1)
NR_038272.1:n.2043+2054A>G (TTN-AS1)
XM_011511729.1:c.94911T>C (TTN) XP_011510031.1:p.Gly31637=
XM_011511730.1:c.68805T>C (TTN) XP_011510032.1:p.Gly22935=
XM_011511731.1:c.68664T>C (TTN) XP_011510033.1:p.Gly22888=
XM_017004819.1:c.94707T>C (TTN) XP_016860308.1:p.Gly31569=
XM_017004820.1:c.90105T>C (TTN) XP_016860309.1:p.Gly30035=
XM_017004821.1:c.90102T>C (TTN) XP_016860310.1:p.Gly30034=
XM_017004822.1:c.87144T>C (TTN) XP_016860311.1:p.Gly29048=
XM_017004823.1:c.68760T>C (TTN) XP_016860312.1:p.Gly22920=
XM_024453094.1:c.90255T>C (TTN) XP_024308862.1:p.Gly30085=
XM_024453095.1:c.90252T>C (TTN) XP_024308863.1:p.Gly30084=
XM_024453096.1:c.89685T>C (TTN) XP_024308864.1:p.Gly29895=
XM_024453097.1:c.87027T>C (TTN) XP_024308865.1:p.Gly29009=
XM_024453098.1:c.86946T>C (TTN) XP_024308866.1:p.Gly28982=
XM_024453099.1:c.68709T>C (TTN) XP_024308867.1:p.Gly22903=
XM_024453100.1:c.58563T>C (TTN) XP_024308868.1:p.Gly19521=