Canonical Allele Identifier: CA60956298

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs878877597
• gnomAD v2: 2-179396997-T-C
• gnomAD v4: 2-178532270-T-C
• MyVariant Identifiers: chr2:g.179396997T>C (hg19) ; chr2:g.178532270T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532270T>C , CM000664.2:g.178532270T>C	GRCh38
NC_000002.11:g.179396997T>C , CM000664.1:g.179396997T>C	GRCh37
NC_000002.10:g.179105243T>C	NCBI36
NG_011618.3:g.303533A>G , LRG_391:g.303533A>G
NG_051363.1:g.14444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96641A>G (TTN)	ENSP00000343764.6:p.His32214Arg
ENST00000342175.11:c.77726A>G (TTN)	ENSP00000340554.6:p.His25909Arg
ENST00000359218.10:c.77525A>G (TTN)	ENSP00000352154.5:p.His25842Arg
ENST00000342175.10:c.77726A>G (TTN)	ENSP00000340554.6:p.His25909Arg
ENST00000342992.10:c.96641A>G (TTN)	ENSP00000343764.6:p.His32214Arg
ENST00000359218.9:c.77525A>G (TTN)	ENSP00000352154.5:p.His25842Arg
ENST00000460472.6:c.77150A>G (TTN)	ENSP00000434586.1:p.His25717Arg
ENST00000589042.5:c.104345A>G (TTN) MANE Select	ENSP00000467141.1:p.His34782Arg
ENST00000591111.5:c.99422A>G (TTN)	ENSP00000465570.1:p.His33141Arg
ENST00000615779.4:c.99422A>G (TTN)	ENSP00000483597.1:p.His33141Arg
NM_001256850.1:c.99422A>G (TTN)	NP_001243779.1:p.His33141Arg
NM_001267550.2:c.104345A>G (TTN) MANE Select	NP_001254479.2:p.His34782Arg
NM_003319.4:c.77150A>G (TTN)	NP_003310.4:p.His25717Arg
NM_133378.4:c.96641A>G (TTN)	NP_596869.4:p.His32214Arg
NM_133432.3:c.77525A>G (TTN)	NP_597676.3:p.His25842Arg
NM_133437.4:c.77726A>G (TTN)	NP_597681.4:p.His25909Arg
NR_038271.1:n.446+8634T>C (TTN-AS1)
NR_038272.1:n.220-3462T>C (TTN-AS1)
XM_011511729.1:c.103442A>G (TTN)	XP_011510031.1:p.His34481Arg
XM_011511730.1:c.77336A>G (TTN)	XP_011510032.1:p.His25779Arg
XM_011511731.1:c.77195A>G (TTN)	XP_011510033.1:p.His25732Arg
XM_017004819.1:c.103238A>G (TTN)	XP_016860308.1:p.His34413Arg
XM_017004820.1:c.98636A>G (TTN)	XP_016860309.1:p.His32879Arg
XM_017004821.1:c.98633A>G (TTN)	XP_016860310.1:p.His32878Arg
XM_017004822.1:c.95675A>G (TTN)	XP_016860311.1:p.His31892Arg
XM_017004823.1:c.77291A>G (TTN)	XP_016860312.1:p.His25764Arg
XM_024453094.1:c.98786A>G (TTN)	XP_024308862.1:p.His32929Arg
XM_024453095.1:c.98783A>G (TTN)	XP_024308863.1:p.His32928Arg
XM_024453096.1:c.98216A>G (TTN)	XP_024308864.1:p.His32739Arg
XM_024453097.1:c.95558A>G (TTN)	XP_024308865.1:p.His31853Arg
XM_024453098.1:c.95477A>G (TTN)	XP_024308866.1:p.His31826Arg
XM_024453099.1:c.77240A>G (TTN)	XP_024308867.1:p.His25747Arg
XM_024453100.1:c.67094A>G (TTN)	XP_024308868.1:p.His22365Arg