Canonical Allele Identifier: CA430235091

Linked Data

MyVariant Identifiers: chr2:g.179395025A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530298A>G , CM000664.2:g.178530298A>G GRCh38
NC_000002.11:g.179395025A>G , CM000664.1:g.179395025A>G GRCh37
NC_000002.10:g.179103271A>G NCBI36
NG_011618.3:g.305505T>C , LRG_391:g.305505T>C
NG_051363.1:g.12472A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98613T>C (TTN) ENSP00000343764.6:p.Phe32871=
ENST00000342175.11:c.79698T>C (TTN) ENSP00000340554.6:p.Phe26566=
ENST00000359218.10:c.79497T>C (TTN) ENSP00000352154.5:p.Phe26499=
ENST00000342175.10:c.79698T>C (TTN) ENSP00000340554.6:p.Phe26566=
ENST00000342992.10:c.98613T>C (TTN) ENSP00000343764.6:p.Phe32871=
ENST00000359218.9:c.79497T>C (TTN) ENSP00000352154.5:p.Phe26499=
ENST00000460472.6:c.79122T>C (TTN) ENSP00000434586.1:p.Phe26374=
ENST00000589042.5:c.106317T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35439=
ENST00000591111.5:c.101394T>C (TTN) ENSP00000465570.1:p.Phe33798=
ENST00000615779.4:c.101394T>C (TTN) ENSP00000483597.1:p.Phe33798=
NM_001256850.1:c.101394T>C (TTN) NP_001243779.1:p.Phe33798=
NM_001267550.2:c.106317T>C (TTN) MANE Select NP_001254479.2:p.Phe35439=
NM_003319.4:c.79122T>C (TTN) NP_003310.4:p.Phe26374=
NM_133378.4:c.98613T>C (TTN) NP_596869.4:p.Phe32871=
NM_133432.3:c.79497T>C (TTN) NP_597676.3:p.Phe26499=
NM_133437.4:c.79698T>C (TTN) NP_597681.4:p.Phe26566=
NR_038271.1:n.446+6662A>G (TTN-AS1)
NR_038272.1:n.220-5434A>G (TTN-AS1)
XM_011511729.1:c.105414T>C (TTN) XP_011510031.1:p.Phe35138=
XM_011511730.1:c.79308T>C (TTN) XP_011510032.1:p.Phe26436=
XM_011511731.1:c.79167T>C (TTN) XP_011510033.1:p.Phe26389=
XM_017004819.1:c.105210T>C (TTN) XP_016860308.1:p.Phe35070=
XM_017004820.1:c.100608T>C (TTN) XP_016860309.1:p.Phe33536=
XM_017004821.1:c.100605T>C (TTN) XP_016860310.1:p.Phe33535=
XM_017004822.1:c.97647T>C (TTN) XP_016860311.1:p.Phe32549=
XM_017004823.1:c.79263T>C (TTN) XP_016860312.1:p.Phe26421=
XM_024453094.1:c.100758T>C (TTN) XP_024308862.1:p.Phe33586=
XM_024453095.1:c.100755T>C (TTN) XP_024308863.1:p.Phe33585=
XM_024453096.1:c.100188T>C (TTN) XP_024308864.1:p.Phe33396=
XM_024453097.1:c.97530T>C (TTN) XP_024308865.1:p.Phe32510=
XM_024453098.1:c.97449T>C (TTN) XP_024308866.1:p.Phe32483=
XM_024453099.1:c.79212T>C (TTN) XP_024308867.1:p.Phe26404=
XM_024453100.1:c.69066T>C (TTN) XP_024308868.1:p.Phe23022=