Canonical Allele Identifier: CA349425004

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400798C>G (hg19) ; chr2:g.178536071C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536071C>G , CM000664.2:g.178536071C>G	GRCh38
NC_000002.11:g.179400798C>G , CM000664.1:g.179400798C>G	GRCh37
NC_000002.10:g.179109044C>G	NCBI36
NG_011618.3:g.299732G>C , LRG_391:g.299732G>C
NG_051363.1:g.18245C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92972G>C (TTN)	ENSP00000343764.6:p.Ser30991Thr
ENST00000342175.11:c.74057G>C (TTN)	ENSP00000340554.6:p.Ser24686Thr
ENST00000359218.10:c.73856G>C (TTN)	ENSP00000352154.5:p.Ser24619Thr
ENST00000342175.10:c.74057G>C (TTN)	ENSP00000340554.6:p.Ser24686Thr
ENST00000342992.10:c.92972G>C (TTN)	ENSP00000343764.6:p.Ser30991Thr
ENST00000359218.9:c.73856G>C (TTN)	ENSP00000352154.5:p.Ser24619Thr
ENST00000460472.6:c.73481G>C (TTN)	ENSP00000434586.1:p.Ser24494Thr
ENST00000589042.5:c.100676G>C (TTN) MANE Select	ENSP00000467141.1:p.Ser33559Thr
ENST00000591111.5:c.95753G>C (TTN)	ENSP00000465570.1:p.Ser31918Thr
ENST00000615779.4:c.95753G>C (TTN)	ENSP00000483597.1:p.Ser31918Thr
NM_001256850.1:c.95753G>C (TTN)	NP_001243779.1:p.Ser31918Thr
NM_001267550.2:c.100676G>C (TTN) MANE Select	NP_001254479.2:p.Ser33559Thr
NM_003319.4:c.73481G>C (TTN)	NP_003310.4:p.Ser24494Thr
NM_133378.4:c.92972G>C (TTN)	NP_596869.4:p.Ser30991Thr
NM_133432.3:c.73856G>C (TTN)	NP_597676.3:p.Ser24619Thr
NM_133437.4:c.74057G>C (TTN)	NP_597681.4:p.Ser24686Thr
NR_038271.1:n.446+12435C>G (TTN-AS1)
NR_038272.1:n.316+243C>G (TTN-AS1)
XM_011511729.1:c.99773G>C (TTN)	XP_011510031.1:p.Ser33258Thr
XM_011511730.1:c.73667G>C (TTN)	XP_011510032.1:p.Ser24556Thr
XM_011511731.1:c.73526G>C (TTN)	XP_011510033.1:p.Ser24509Thr
XM_017004819.1:c.99569G>C (TTN)	XP_016860308.1:p.Ser33190Thr
XM_017004820.1:c.94967G>C (TTN)	XP_016860309.1:p.Ser31656Thr
XM_017004821.1:c.94964G>C (TTN)	XP_016860310.1:p.Ser31655Thr
XM_017004822.1:c.92006G>C (TTN)	XP_016860311.1:p.Ser30669Thr
XM_017004823.1:c.73622G>C (TTN)	XP_016860312.1:p.Ser24541Thr
XM_024453094.1:c.95117G>C (TTN)	XP_024308862.1:p.Ser31706Thr
XM_024453095.1:c.95114G>C (TTN)	XP_024308863.1:p.Ser31705Thr
XM_024453096.1:c.94547G>C (TTN)	XP_024308864.1:p.Ser31516Thr
XM_024453097.1:c.91889G>C (TTN)	XP_024308865.1:p.Ser30630Thr
XM_024453098.1:c.91808G>C (TTN)	XP_024308866.1:p.Ser30603Thr
XM_024453099.1:c.73571G>C (TTN)	XP_024308867.1:p.Ser24524Thr
XM_024453100.1:c.63425G>C (TTN)	XP_024308868.1:p.Ser21142Thr