Canonical Allele Identifier: CA349647802

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178573873-G-C
• MyVariant Identifiers: chr2:g.179438600G>C (hg19) ; chr2:g.178573873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573873G>C , CM000664.2:g.178573873G>C	GRCh38
NC_000002.11:g.179438600G>C , CM000664.1:g.179438600G>C	GRCh37
NC_000002.10:g.179146846G>C	NCBI36
NG_011618.3:g.261930C>G , LRG_391:g.261930C>G
NG_051363.1:g.56047G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64555C>G (TTN)	ENSP00000343764.6:p.Leu21519Val
ENST00000342175.11:c.45640C>G (TTN)	ENSP00000340554.6:p.Leu15214Val
ENST00000359218.10:c.45439C>G (TTN)	ENSP00000352154.5:p.Leu15147Val
ENST00000342175.10:c.45640C>G (TTN)	ENSP00000340554.6:p.Leu15214Val
ENST00000342992.10:c.64555C>G (TTN)	ENSP00000343764.6:p.Leu21519Val
ENST00000359218.9:c.45439C>G (TTN)	ENSP00000352154.5:p.Leu15147Val
ENST00000460472.6:c.45064C>G (TTN)	ENSP00000434586.1:p.Leu15022Val
ENST00000589042.5:c.72259C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu24087Val
ENST00000591111.5:c.67336C>G (TTN)	ENSP00000465570.1:p.Leu22446Val
ENST00000615779.4:c.67336C>G (TTN)	ENSP00000483597.1:p.Leu22446Val
NM_001256850.1:c.67336C>G (TTN)	NP_001243779.1:p.Leu22446Val
NM_001267550.2:c.72259C>G (TTN) MANE Select	NP_001254479.2:p.Leu24087Val
NM_003319.4:c.45064C>G (TTN)	NP_003310.4:p.Leu15022Val
NM_133378.4:c.64555C>G (TTN)	NP_596869.4:p.Leu21519Val
NM_133432.3:c.45439C>G (TTN)	NP_597676.3:p.Leu15147Val
NM_133437.4:c.45640C>G (TTN)	NP_597681.4:p.Leu15214Val
NR_038271.1:n.596+2424G>C (TTN-AS1)
NR_038272.1:n.2044-8699G>C (TTN-AS1)
XM_011511729.1:c.71356C>G (TTN)	XP_011510031.1:p.Leu23786Val
XM_011511730.1:c.45250C>G (TTN)	XP_011510032.1:p.Leu15084Val
XM_011511731.1:c.45109C>G (TTN)	XP_011510033.1:p.Leu15037Val
XM_017004819.1:c.71152C>G (TTN)	XP_016860308.1:p.Leu23718Val
XM_017004820.1:c.66550C>G (TTN)	XP_016860309.1:p.Leu22184Val
XM_017004821.1:c.66547C>G (TTN)	XP_016860310.1:p.Leu22183Val
XM_017004822.1:c.63589C>G (TTN)	XP_016860311.1:p.Leu21197Val
XM_017004823.1:c.45205C>G (TTN)	XP_016860312.1:p.Leu15069Val
XM_024453094.1:c.66700C>G (TTN)	XP_024308862.1:p.Leu22234Val
XM_024453095.1:c.66697C>G (TTN)	XP_024308863.1:p.Leu22233Val
XM_024453096.1:c.66130C>G (TTN)	XP_024308864.1:p.Leu22044Val
XM_024453097.1:c.63472C>G (TTN)	XP_024308865.1:p.Leu21158Val
XM_024453098.1:c.63391C>G (TTN)	XP_024308866.1:p.Leu21131Val
XM_024453099.1:c.45154C>G (TTN)	XP_024308867.1:p.Leu15052Val
XM_024453100.1:c.35008C>G (TTN)	XP_024308868.1:p.Leu11670Val