Canonical Allele Identifier: CA349425416

Gene: TTN TTN-AS1

Linked Data

• gnomAD v3: 2-178536174-G-A
• gnomAD v4: 2-178536174-G-A
• MyVariant Identifiers: chr2:g.179400901G>A (hg19) ; chr2:g.178536174G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536174G>A , CM000664.2:g.178536174G>A	GRCh38
NC_000002.11:g.179400901G>A , CM000664.1:g.179400901G>A	GRCh37
NC_000002.10:g.179109147G>A	NCBI36
NG_011618.3:g.299629C>T , LRG_391:g.299629C>T
NG_051363.1:g.18348G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92869C>T (TTN)	ENSP00000343764.6:p.Pro30957Ser
ENST00000342175.11:c.73954C>T (TTN)	ENSP00000340554.6:p.Pro24652Ser
ENST00000359218.10:c.73753C>T (TTN)	ENSP00000352154.5:p.Pro24585Ser
ENST00000342175.10:c.73954C>T (TTN)	ENSP00000340554.6:p.Pro24652Ser
ENST00000342992.10:c.92869C>T (TTN)	ENSP00000343764.6:p.Pro30957Ser
ENST00000359218.9:c.73753C>T (TTN)	ENSP00000352154.5:p.Pro24585Ser
ENST00000460472.6:c.73378C>T (TTN)	ENSP00000434586.1:p.Pro24460Ser
ENST00000589042.5:c.100573C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro33525Ser
ENST00000591111.5:c.95650C>T (TTN)	ENSP00000465570.1:p.Pro31884Ser
ENST00000615779.4:c.95650C>T (TTN)	ENSP00000483597.1:p.Pro31884Ser
NM_001256850.1:c.95650C>T (TTN)	NP_001243779.1:p.Pro31884Ser
NM_001267550.2:c.100573C>T (TTN) MANE Select	NP_001254479.2:p.Pro33525Ser
NM_003319.4:c.73378C>T (TTN)	NP_003310.4:p.Pro24460Ser
NM_133378.4:c.92869C>T (TTN)	NP_596869.4:p.Pro30957Ser
NM_133432.3:c.73753C>T (TTN)	NP_597676.3:p.Pro24585Ser
NM_133437.4:c.73954C>T (TTN)	NP_597681.4:p.Pro24652Ser
NR_038271.1:n.446+12538G>A (TTN-AS1)
NR_038272.1:n.316+346G>A (TTN-AS1)
XM_011511729.1:c.99670C>T (TTN)	XP_011510031.1:p.Pro33224Ser
XM_011511730.1:c.73564C>T (TTN)	XP_011510032.1:p.Pro24522Ser
XM_011511731.1:c.73423C>T (TTN)	XP_011510033.1:p.Pro24475Ser
XM_017004819.1:c.99466C>T (TTN)	XP_016860308.1:p.Pro33156Ser
XM_017004820.1:c.94864C>T (TTN)	XP_016860309.1:p.Pro31622Ser
XM_017004821.1:c.94861C>T (TTN)	XP_016860310.1:p.Pro31621Ser
XM_017004822.1:c.91903C>T (TTN)	XP_016860311.1:p.Pro30635Ser
XM_017004823.1:c.73519C>T (TTN)	XP_016860312.1:p.Pro24507Ser
XM_024453094.1:c.95014C>T (TTN)	XP_024308862.1:p.Pro31672Ser
XM_024453095.1:c.95011C>T (TTN)	XP_024308863.1:p.Pro31671Ser
XM_024453096.1:c.94444C>T (TTN)	XP_024308864.1:p.Pro31482Ser
XM_024453097.1:c.91786C>T (TTN)	XP_024308865.1:p.Pro30596Ser
XM_024453098.1:c.91705C>T (TTN)	XP_024308866.1:p.Pro30569Ser
XM_024453099.1:c.73468C>T (TTN)	XP_024308867.1:p.Pro24490Ser
XM_024453100.1:c.63322C>T (TTN)	XP_024308868.1:p.Pro21108Ser