Canonical Allele Identifier: CA430260988

Linked Data

dbSNP Id: rs2047227501
MyVariant Identifiers: chr2:g.179444292A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579565A>G , CM000664.2:g.178579565A>G GRCh38
NC_000002.11:g.179444292A>G , CM000664.1:g.179444292A>G GRCh37
NC_000002.10:g.179152538A>G NCBI36
NG_011618.3:g.256238T>C , LRG_391:g.256238T>C
NG_051363.1:g.61739A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59928T>C (TTN) ENSP00000343764.6:p.Asp19976=
ENST00000342175.11:c.41013T>C (TTN) ENSP00000340554.6:p.Asp13671=
ENST00000359218.10:c.40812T>C (TTN) ENSP00000352154.5:p.Asp13604=
ENST00000342175.10:c.41013T>C (TTN) ENSP00000340554.6:p.Asp13671=
ENST00000342992.10:c.59928T>C (TTN) ENSP00000343764.6:p.Asp19976=
ENST00000359218.9:c.40812T>C (TTN) ENSP00000352154.5:p.Asp13604=
ENST00000460472.6:c.40437T>C (TTN) ENSP00000434586.1:p.Asp13479=
ENST00000589042.5:c.67632T>C (TTN) MANE Select ENSP00000467141.1:p.Asp22544=
ENST00000591111.5:c.62709T>C (TTN) ENSP00000465570.1:p.Asp20903=
ENST00000615779.4:c.62709T>C (TTN) ENSP00000483597.1:p.Asp20903=
NM_001256850.1:c.62709T>C (TTN) NP_001243779.1:p.Asp20903=
NM_001267550.2:c.67632T>C (TTN) MANE Select NP_001254479.2:p.Asp22544=
NM_003319.4:c.40437T>C (TTN) NP_003310.4:p.Asp13479=
NM_133378.4:c.59928T>C (TTN) NP_596869.4:p.Asp19976=
NM_133432.3:c.40812T>C (TTN) NP_597676.3:p.Asp13604=
NM_133437.4:c.41013T>C (TTN) NP_597681.4:p.Asp13671=
NR_038271.1:n.596+8116A>G (TTN-AS1)
NR_038272.1:n.2044-3007A>G (TTN-AS1)
XM_011511729.1:c.66729T>C (TTN) XP_011510031.1:p.Asp22243=
XM_011511730.1:c.40623T>C (TTN) XP_011510032.1:p.Asp13541=
XM_011511731.1:c.40482T>C (TTN) XP_011510033.1:p.Asp13494=
XM_017004819.1:c.66525T>C (TTN) XP_016860308.1:p.Asp22175=
XM_017004820.1:c.61923T>C (TTN) XP_016860309.1:p.Asp20641=
XM_017004821.1:c.61920T>C (TTN) XP_016860310.1:p.Asp20640=
XM_017004822.1:c.58962T>C (TTN) XP_016860311.1:p.Asp19654=
XM_017004823.1:c.40578T>C (TTN) XP_016860312.1:p.Asp13526=
XM_024453094.1:c.62073T>C (TTN) XP_024308862.1:p.Asp20691=
XM_024453095.1:c.62070T>C (TTN) XP_024308863.1:p.Asp20690=
XM_024453096.1:c.61503T>C (TTN) XP_024308864.1:p.Asp20501=
XM_024453097.1:c.58845T>C (TTN) XP_024308865.1:p.Asp19615=
XM_024453098.1:c.58764T>C (TTN) XP_024308866.1:p.Asp19588=
XM_024453099.1:c.40527T>C (TTN) XP_024308867.1:p.Asp13509=
XM_024453100.1:c.30381T>C (TTN) XP_024308868.1:p.Asp10127=