Canonical Allele Identifier: CA349445843

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179407996G>C (hg19) ; chr2:g.178543269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543269G>C , CM000664.2:g.178543269G>C	GRCh38
NC_000002.11:g.179407996G>C , CM000664.1:g.179407996G>C	GRCh37
NC_000002.10:g.179116242G>C	NCBI36
NG_011618.3:g.292534C>G , LRG_391:g.292534C>G
NG_051363.1:g.25443G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.89000C>G (TTN)	ENSP00000343764.6:p.Thr29667Ser
ENST00000342175.11:c.70085C>G (TTN)	ENSP00000340554.6:p.Thr23362Ser
ENST00000359218.10:c.69884C>G (TTN)	ENSP00000352154.5:p.Thr23295Ser
ENST00000342175.10:c.70085C>G (TTN)	ENSP00000340554.6:p.Thr23362Ser
ENST00000342992.10:c.89000C>G (TTN)	ENSP00000343764.6:p.Thr29667Ser
ENST00000359218.9:c.69884C>G (TTN)	ENSP00000352154.5:p.Thr23295Ser
ENST00000460472.6:c.69509C>G (TTN)	ENSP00000434586.1:p.Thr23170Ser
ENST00000589042.5:c.96704C>G (TTN) MANE Select	ENSP00000467141.1:p.Thr32235Ser
ENST00000591111.5:c.91781C>G (TTN)	ENSP00000465570.1:p.Thr30594Ser
ENST00000615779.4:c.91781C>G (TTN)	ENSP00000483597.1:p.Thr30594Ser
NM_001256850.1:c.91781C>G (TTN)	NP_001243779.1:p.Thr30594Ser
NM_001267550.2:c.96704C>G (TTN) MANE Select	NP_001254479.2:p.Thr32235Ser
NM_003319.4:c.69509C>G (TTN)	NP_003310.4:p.Thr23170Ser
NM_133378.4:c.89000C>G (TTN)	NP_596869.4:p.Thr29667Ser
NM_133432.3:c.69884C>G (TTN)	NP_597676.3:p.Thr23295Ser
NM_133437.4:c.70085C>G (TTN)	NP_597681.4:p.Thr23362Ser
NR_038271.1:n.446+19633G>C (TTN-AS1)
NR_038272.1:n.2043+908G>C (TTN-AS1)
XM_011511729.1:c.95801C>G (TTN)	XP_011510031.1:p.Thr31934Ser
XM_011511730.1:c.69695C>G (TTN)	XP_011510032.1:p.Thr23232Ser
XM_011511731.1:c.69554C>G (TTN)	XP_011510033.1:p.Thr23185Ser
XM_017004819.1:c.95597C>G (TTN)	XP_016860308.1:p.Thr31866Ser
XM_017004820.1:c.90995C>G (TTN)	XP_016860309.1:p.Thr30332Ser
XM_017004821.1:c.90992C>G (TTN)	XP_016860310.1:p.Thr30331Ser
XM_017004822.1:c.88034C>G (TTN)	XP_016860311.1:p.Thr29345Ser
XM_017004823.1:c.69650C>G (TTN)	XP_016860312.1:p.Thr23217Ser
XM_024453094.1:c.91145C>G (TTN)	XP_024308862.1:p.Thr30382Ser
XM_024453095.1:c.91142C>G (TTN)	XP_024308863.1:p.Thr30381Ser
XM_024453096.1:c.90575C>G (TTN)	XP_024308864.1:p.Thr30192Ser
XM_024453097.1:c.87917C>G (TTN)	XP_024308865.1:p.Thr29306Ser
XM_024453098.1:c.87836C>G (TTN)	XP_024308866.1:p.Thr29279Ser
XM_024453099.1:c.69599C>G (TTN)	XP_024308867.1:p.Thr23200Ser
XM_024453100.1:c.59453C>G (TTN)	XP_024308868.1:p.Thr19818Ser