Canonical Allele Identifier: CA430235035

Linked Data

MyVariant Identifiers: chr2:g.179395193A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530466A>G , CM000664.2:g.178530466A>G GRCh38
NC_000002.11:g.179395193A>G , CM000664.1:g.179395193A>G GRCh37
NC_000002.10:g.179103439A>G NCBI36
NG_011618.3:g.305337T>C , LRG_391:g.305337T>C
NG_051363.1:g.12640A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98445T>C (TTN) ENSP00000343764.6:p.His32815=
ENST00000342175.11:c.79530T>C (TTN) ENSP00000340554.6:p.His26510=
ENST00000359218.10:c.79329T>C (TTN) ENSP00000352154.5:p.His26443=
ENST00000342175.10:c.79530T>C (TTN) ENSP00000340554.6:p.His26510=
ENST00000342992.10:c.98445T>C (TTN) ENSP00000343764.6:p.His32815=
ENST00000359218.9:c.79329T>C (TTN) ENSP00000352154.5:p.His26443=
ENST00000460472.6:c.78954T>C (TTN) ENSP00000434586.1:p.His26318=
ENST00000589042.5:c.106149T>C (TTN) MANE Select ENSP00000467141.1:p.His35383=
ENST00000591111.5:c.101226T>C (TTN) ENSP00000465570.1:p.His33742=
ENST00000615779.4:c.101226T>C (TTN) ENSP00000483597.1:p.His33742=
NM_001256850.1:c.101226T>C (TTN) NP_001243779.1:p.His33742=
NM_001267550.2:c.106149T>C (TTN) MANE Select NP_001254479.2:p.His35383=
NM_003319.4:c.78954T>C (TTN) NP_003310.4:p.His26318=
NM_133378.4:c.98445T>C (TTN) NP_596869.4:p.His32815=
NM_133432.3:c.79329T>C (TTN) NP_597676.3:p.His26443=
NM_133437.4:c.79530T>C (TTN) NP_597681.4:p.His26510=
NR_038271.1:n.446+6830A>G (TTN-AS1)
NR_038272.1:n.220-5266A>G (TTN-AS1)
XM_011511729.1:c.105246T>C (TTN) XP_011510031.1:p.His35082=
XM_011511730.1:c.79140T>C (TTN) XP_011510032.1:p.His26380=
XM_011511731.1:c.78999T>C (TTN) XP_011510033.1:p.His26333=
XM_017004819.1:c.105042T>C (TTN) XP_016860308.1:p.His35014=
XM_017004820.1:c.100440T>C (TTN) XP_016860309.1:p.His33480=
XM_017004821.1:c.100437T>C (TTN) XP_016860310.1:p.His33479=
XM_017004822.1:c.97479T>C (TTN) XP_016860311.1:p.His32493=
XM_017004823.1:c.79095T>C (TTN) XP_016860312.1:p.His26365=
XM_024453094.1:c.100590T>C (TTN) XP_024308862.1:p.His33530=
XM_024453095.1:c.100587T>C (TTN) XP_024308863.1:p.His33529=
XM_024453096.1:c.100020T>C (TTN) XP_024308864.1:p.His33340=
XM_024453097.1:c.97362T>C (TTN) XP_024308865.1:p.His32454=
XM_024453098.1:c.97281T>C (TTN) XP_024308866.1:p.His32427=
XM_024453099.1:c.79044T>C (TTN) XP_024308867.1:p.His26348=
XM_024453100.1:c.68898T>C (TTN) XP_024308868.1:p.His22966=