Canonical Allele Identifier: CA349406990

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395221A>G (hg19) ; chr2:g.178530494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530494A>G , CM000664.2:g.178530494A>G	GRCh38
NC_000002.11:g.179395221A>G , CM000664.1:g.179395221A>G	GRCh37
NC_000002.10:g.179103467A>G	NCBI36
NG_011618.3:g.305309T>C , LRG_391:g.305309T>C
NG_051363.1:g.12668A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98417T>C (TTN)	ENSP00000343764.6:p.Phe32806Ser
ENST00000342175.11:c.79502T>C (TTN)	ENSP00000340554.6:p.Phe26501Ser
ENST00000359218.10:c.79301T>C (TTN)	ENSP00000352154.5:p.Phe26434Ser
ENST00000342175.10:c.79502T>C (TTN)	ENSP00000340554.6:p.Phe26501Ser
ENST00000342992.10:c.98417T>C (TTN)	ENSP00000343764.6:p.Phe32806Ser
ENST00000359218.9:c.79301T>C (TTN)	ENSP00000352154.5:p.Phe26434Ser
ENST00000460472.6:c.78926T>C (TTN)	ENSP00000434586.1:p.Phe26309Ser
ENST00000589042.5:c.106121T>C (TTN) MANE Select	ENSP00000467141.1:p.Phe35374Ser
ENST00000591111.5:c.101198T>C (TTN)	ENSP00000465570.1:p.Phe33733Ser
ENST00000615779.4:c.101198T>C (TTN)	ENSP00000483597.1:p.Phe33733Ser
NM_001256850.1:c.101198T>C (TTN)	NP_001243779.1:p.Phe33733Ser
NM_001267550.2:c.106121T>C (TTN) MANE Select	NP_001254479.2:p.Phe35374Ser
NM_003319.4:c.78926T>C (TTN)	NP_003310.4:p.Phe26309Ser
NM_133378.4:c.98417T>C (TTN)	NP_596869.4:p.Phe32806Ser
NM_133432.3:c.79301T>C (TTN)	NP_597676.3:p.Phe26434Ser
NM_133437.4:c.79502T>C (TTN)	NP_597681.4:p.Phe26501Ser
NR_038271.1:n.446+6858A>G (TTN-AS1)
NR_038272.1:n.220-5238A>G (TTN-AS1)
XM_011511729.1:c.105218T>C (TTN)	XP_011510031.1:p.Phe35073Ser
XM_011511730.1:c.79112T>C (TTN)	XP_011510032.1:p.Phe26371Ser
XM_011511731.1:c.78971T>C (TTN)	XP_011510033.1:p.Phe26324Ser
XM_017004819.1:c.105014T>C (TTN)	XP_016860308.1:p.Phe35005Ser
XM_017004820.1:c.100412T>C (TTN)	XP_016860309.1:p.Phe33471Ser
XM_017004821.1:c.100409T>C (TTN)	XP_016860310.1:p.Phe33470Ser
XM_017004822.1:c.97451T>C (TTN)	XP_016860311.1:p.Phe32484Ser
XM_017004823.1:c.79067T>C (TTN)	XP_016860312.1:p.Phe26356Ser
XM_024453094.1:c.100562T>C (TTN)	XP_024308862.1:p.Phe33521Ser
XM_024453095.1:c.100559T>C (TTN)	XP_024308863.1:p.Phe33520Ser
XM_024453096.1:c.99992T>C (TTN)	XP_024308864.1:p.Phe33331Ser
XM_024453097.1:c.97334T>C (TTN)	XP_024308865.1:p.Phe32445Ser
XM_024453098.1:c.97253T>C (TTN)	XP_024308866.1:p.Phe32418Ser
XM_024453099.1:c.79016T>C (TTN)	XP_024308867.1:p.Phe26339Ser
XM_024453100.1:c.68870T>C (TTN)	XP_024308868.1:p.Phe22957Ser