Canonical Allele Identifier: CA349405260

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1171675957
• gnomAD v2: 2-179394780-G-C
• MyVariant Identifiers: chr2:g.179394780G>C (hg19) ; chr2:g.178530053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530053G>C , CM000664.2:g.178530053G>C	GRCh38
NC_000002.11:g.179394780G>C , CM000664.1:g.179394780G>C	GRCh37
NC_000002.10:g.179103026G>C	NCBI36
NG_011618.3:g.305750C>G , LRG_391:g.305750C>G
NG_051363.1:g.12227G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98734C>G (TTN)	ENSP00000343764.6:p.His32912Asp
ENST00000342175.11:c.79819C>G (TTN)	ENSP00000340554.6:p.His26607Asp
ENST00000359218.10:c.79618C>G (TTN)	ENSP00000352154.5:p.His26540Asp
ENST00000342175.10:c.79819C>G (TTN)	ENSP00000340554.6:p.His26607Asp
ENST00000342992.10:c.98734C>G (TTN)	ENSP00000343764.6:p.His32912Asp
ENST00000359218.9:c.79618C>G (TTN)	ENSP00000352154.5:p.His26540Asp
ENST00000460472.6:c.79243C>G (TTN)	ENSP00000434586.1:p.His26415Asp
ENST00000589042.5:c.106438C>G (TTN) MANE Select	ENSP00000467141.1:p.His35480Asp
ENST00000591111.5:c.101515C>G (TTN)	ENSP00000465570.1:p.His33839Asp
ENST00000615779.4:c.101515C>G (TTN)	ENSP00000483597.1:p.His33839Asp
NM_001256850.1:c.101515C>G (TTN)	NP_001243779.1:p.His33839Asp
NM_001267550.2:c.106438C>G (TTN) MANE Select	NP_001254479.2:p.His35480Asp
NM_003319.4:c.79243C>G (TTN)	NP_003310.4:p.His26415Asp
NM_133378.4:c.98734C>G (TTN)	NP_596869.4:p.His32912Asp
NM_133432.3:c.79618C>G (TTN)	NP_597676.3:p.His26540Asp
NM_133437.4:c.79819C>G (TTN)	NP_597681.4:p.His26607Asp
NR_038271.1:n.446+6417G>C (TTN-AS1)
NR_038272.1:n.220-5679G>C (TTN-AS1)
XM_011511729.1:c.105535C>G (TTN)	XP_011510031.1:p.His35179Asp
XM_011511730.1:c.79429C>G (TTN)	XP_011510032.1:p.His26477Asp
XM_011511731.1:c.79288C>G (TTN)	XP_011510033.1:p.His26430Asp
XM_017004819.1:c.105331C>G (TTN)	XP_016860308.1:p.His35111Asp
XM_017004820.1:c.100729C>G (TTN)	XP_016860309.1:p.His33577Asp
XM_017004821.1:c.100726C>G (TTN)	XP_016860310.1:p.His33576Asp
XM_017004822.1:c.97768C>G (TTN)	XP_016860311.1:p.His32590Asp
XM_017004823.1:c.79384C>G (TTN)	XP_016860312.1:p.His26462Asp
XM_024453094.1:c.100879C>G (TTN)	XP_024308862.1:p.His33627Asp
XM_024453095.1:c.100876C>G (TTN)	XP_024308863.1:p.His33626Asp
XM_024453096.1:c.100309C>G (TTN)	XP_024308864.1:p.His33437Asp
XM_024453097.1:c.97651C>G (TTN)	XP_024308865.1:p.His32551Asp
XM_024453098.1:c.97570C>G (TTN)	XP_024308866.1:p.His32524Asp
XM_024453099.1:c.79333C>G (TTN)	XP_024308867.1:p.His26445Asp
XM_024453100.1:c.69187C>G (TTN)	XP_024308868.1:p.His23063Asp