Canonical Allele Identifier: CA349423572

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444403C>A (hg19) ; chr2:g.178579676C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579676C>A , CM000664.2:g.178579676C>A	GRCh38
NC_000002.11:g.179444403C>A , CM000664.1:g.179444403C>A	GRCh37
NC_000002.10:g.179152649C>A	NCBI36
NG_011618.3:g.256127G>T , LRG_391:g.256127G>T
NG_051363.1:g.61850C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59817G>T (TTN)	ENSP00000343764.6:p.Gln19939His
ENST00000342175.11:c.40902G>T (TTN)	ENSP00000340554.6:p.Gln13634His
ENST00000359218.10:c.40701G>T (TTN)	ENSP00000352154.5:p.Gln13567His
ENST00000342175.10:c.40902G>T (TTN)	ENSP00000340554.6:p.Gln13634His
ENST00000342992.10:c.59817G>T (TTN)	ENSP00000343764.6:p.Gln19939His
ENST00000359218.9:c.40701G>T (TTN)	ENSP00000352154.5:p.Gln13567His
ENST00000460472.6:c.40326G>T (TTN)	ENSP00000434586.1:p.Gln13442His
ENST00000589042.5:c.67521G>T (TTN) MANE Select	ENSP00000467141.1:p.Gln22507His
ENST00000591111.5:c.62598G>T (TTN)	ENSP00000465570.1:p.Gln20866His
ENST00000615779.4:c.62598G>T (TTN)	ENSP00000483597.1:p.Gln20866His
NM_001256850.1:c.62598G>T (TTN)	NP_001243779.1:p.Gln20866His
NM_001267550.2:c.67521G>T (TTN) MANE Select	NP_001254479.2:p.Gln22507His
NM_003319.4:c.40326G>T (TTN)	NP_003310.4:p.Gln13442His
NM_133378.4:c.59817G>T (TTN)	NP_596869.4:p.Gln19939His
NM_133432.3:c.40701G>T (TTN)	NP_597676.3:p.Gln13567His
NM_133437.4:c.40902G>T (TTN)	NP_597681.4:p.Gln13634His
NR_038271.1:n.596+8227C>A (TTN-AS1)
NR_038272.1:n.2044-2896C>A (TTN-AS1)
XM_011511729.1:c.66618G>T (TTN)	XP_011510031.1:p.Gln22206His
XM_011511730.1:c.40512G>T (TTN)	XP_011510032.1:p.Gln13504His
XM_011511731.1:c.40371G>T (TTN)	XP_011510033.1:p.Gln13457His
XM_017004819.1:c.66414G>T (TTN)	XP_016860308.1:p.Gln22138His
XM_017004820.1:c.61812G>T (TTN)	XP_016860309.1:p.Gln20604His
XM_017004821.1:c.61809G>T (TTN)	XP_016860310.1:p.Gln20603His
XM_017004822.1:c.58851G>T (TTN)	XP_016860311.1:p.Gln19617His
XM_017004823.1:c.40467G>T (TTN)	XP_016860312.1:p.Gln13489His
XM_024453094.1:c.61962G>T (TTN)	XP_024308862.1:p.Gln20654His
XM_024453095.1:c.61959G>T (TTN)	XP_024308863.1:p.Gln20653His
XM_024453096.1:c.61392G>T (TTN)	XP_024308864.1:p.Gln20464His
XM_024453097.1:c.58734G>T (TTN)	XP_024308865.1:p.Gln19578His
XM_024453098.1:c.58653G>T (TTN)	XP_024308866.1:p.Gln19551His
XM_024453099.1:c.40416G>T (TTN)	XP_024308867.1:p.Gln13472His
XM_024453100.1:c.30270G>T (TTN)	XP_024308868.1:p.Gln10090His