Canonical Allele Identifier: CA349507111

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178594026-T-C
• MyVariant Identifiers: chr2:g.179458753T>C (hg19) ; chr2:g.178594026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594026T>C , CM000664.2:g.178594026T>C	GRCh38
NC_000002.11:g.179458753T>C , CM000664.1:g.179458753T>C	GRCh37
NC_000002.10:g.179166999T>C	NCBI36
NG_011618.3:g.241777A>G , LRG_391:g.241777A>G
NG_051363.1:g.76200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50663A>G (TTN)	ENSP00000343764.6:p.Lys16888Arg
ENST00000342175.11:c.31748A>G (TTN)	ENSP00000340554.6:p.Lys10583Arg
ENST00000359218.10:c.31547A>G (TTN)	ENSP00000352154.5:p.Lys10516Arg
ENST00000342175.10:c.31748A>G (TTN)	ENSP00000340554.6:p.Lys10583Arg
ENST00000342992.10:c.50663A>G (TTN)	ENSP00000343764.6:p.Lys16888Arg
ENST00000359218.9:c.31547A>G (TTN)	ENSP00000352154.5:p.Lys10516Arg
ENST00000460472.6:c.31172A>G (TTN)	ENSP00000434586.1:p.Lys10391Arg
ENST00000589042.5:c.58367A>G (TTN) MANE Select	ENSP00000467141.1:p.Lys19456Arg
ENST00000591111.5:c.53444A>G (TTN)	ENSP00000465570.1:p.Lys17815Arg
ENST00000615779.4:c.53444A>G (TTN)	ENSP00000483597.1:p.Lys17815Arg
NM_001256850.1:c.53444A>G (TTN)	NP_001243779.1:p.Lys17815Arg
NM_001267550.2:c.58367A>G (TTN) MANE Select	NP_001254479.2:p.Lys19456Arg
NM_003319.4:c.31172A>G (TTN)	NP_003310.4:p.Lys10391Arg
NM_133378.4:c.50663A>G (TTN)	NP_596869.4:p.Lys16888Arg
NM_133432.3:c.31547A>G (TTN)	NP_597676.3:p.Lys10516Arg
NM_133437.4:c.31748A>G (TTN)	NP_597681.4:p.Lys10583Arg
NR_038271.1:n.597-3570T>C (TTN-AS1)
NR_038272.1:n.3364+2712T>C (TTN-AS1)
XM_011511729.1:c.57464A>G (TTN)	XP_011510031.1:p.Lys19155Arg
XM_011511730.1:c.31358A>G (TTN)	XP_011510032.1:p.Lys10453Arg
XM_011511731.1:c.31217A>G (TTN)	XP_011510033.1:p.Lys10406Arg
XM_017004819.1:c.57260A>G (TTN)	XP_016860308.1:p.Lys19087Arg
XM_017004820.1:c.52658A>G (TTN)	XP_016860309.1:p.Lys17553Arg
XM_017004821.1:c.52655A>G (TTN)	XP_016860310.1:p.Lys17552Arg
XM_017004822.1:c.49697A>G (TTN)	XP_016860311.1:p.Lys16566Arg
XM_017004823.1:c.31313A>G (TTN)	XP_016860312.1:p.Lys10438Arg
XM_024453094.1:c.52808A>G (TTN)	XP_024308862.1:p.Lys17603Arg
XM_024453095.1:c.52805A>G (TTN)	XP_024308863.1:p.Lys17602Arg
XM_024453096.1:c.52238A>G (TTN)	XP_024308864.1:p.Lys17413Arg
XM_024453097.1:c.49580A>G (TTN)	XP_024308865.1:p.Lys16527Arg
XM_024453098.1:c.49499A>G (TTN)	XP_024308866.1:p.Lys16500Arg
XM_024453099.1:c.31262A>G (TTN)	XP_024308867.1:p.Lys10421Arg
XM_024453100.1:c.21116A>G (TTN)	XP_024308868.1:p.Lys7039Arg