Canonical Allele Identifier: CA349519027

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179418367C>A (hg19) ; chr2:g.178553640C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553640C>A , CM000664.2:g.178553640C>A	GRCh38
NC_000002.11:g.179418367C>A , CM000664.1:g.179418367C>A	GRCh37
NC_000002.10:g.179126613C>A	NCBI36
NG_011618.3:g.282163G>T , LRG_391:g.282163G>T
NG_051363.1:g.35814C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81661G>T (TTN)	ENSP00000343764.6:p.Glu27221Ter
ENST00000342175.11:c.62746G>T (TTN)	ENSP00000340554.6:p.Glu20916Ter
ENST00000359218.10:c.62545G>T (TTN)	ENSP00000352154.5:p.Glu20849Ter
ENST00000342175.10:c.62746G>T (TTN)	ENSP00000340554.6:p.Glu20916Ter
ENST00000342992.10:c.81661G>T (TTN)	ENSP00000343764.6:p.Glu27221Ter
ENST00000359218.9:c.62545G>T (TTN)	ENSP00000352154.5:p.Glu20849Ter
ENST00000460472.6:c.62170G>T (TTN)	ENSP00000434586.1:p.Glu20724Ter
ENST00000589042.5:c.89365G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu29789Ter
ENST00000591111.5:c.84442G>T (TTN)	ENSP00000465570.1:p.Glu28148Ter
ENST00000615779.4:c.84442G>T (TTN)	ENSP00000483597.1:p.Glu28148Ter
NM_001256850.1:c.84442G>T (TTN)	NP_001243779.1:p.Glu28148Ter
NM_001267550.2:c.89365G>T (TTN) MANE Select	NP_001254479.2:p.Glu29789Ter
NM_003319.4:c.62170G>T (TTN)	NP_003310.4:p.Glu20724Ter
NM_133378.4:c.81661G>T (TTN)	NP_596869.4:p.Glu27221Ter
NM_133432.3:c.62545G>T (TTN)	NP_597676.3:p.Glu20849Ter
NM_133437.4:c.62746G>T (TTN)	NP_597681.4:p.Glu20916Ter
NR_038271.1:n.447-17660C>A (TTN-AS1)
NR_038272.1:n.2043+11279C>A (TTN-AS1)
XM_011511729.1:c.88462G>T (TTN)	XP_011510031.1:p.Glu29488Ter
XM_011511730.1:c.62356G>T (TTN)	XP_011510032.1:p.Glu20786Ter
XM_011511731.1:c.62215G>T (TTN)	XP_011510033.1:p.Glu20739Ter
XM_017004819.1:c.88258G>T (TTN)	XP_016860308.1:p.Glu29420Ter
XM_017004820.1:c.83656G>T (TTN)	XP_016860309.1:p.Glu27886Ter
XM_017004821.1:c.83653G>T (TTN)	XP_016860310.1:p.Glu27885Ter
XM_017004822.1:c.80695G>T (TTN)	XP_016860311.1:p.Glu26899Ter
XM_017004823.1:c.62311G>T (TTN)	XP_016860312.1:p.Glu20771Ter
XM_024453094.1:c.83806G>T (TTN)	XP_024308862.1:p.Glu27936Ter
XM_024453095.1:c.83803G>T (TTN)	XP_024308863.1:p.Glu27935Ter
XM_024453096.1:c.83236G>T (TTN)	XP_024308864.1:p.Glu27746Ter
XM_024453097.1:c.80578G>T (TTN)	XP_024308865.1:p.Glu26860Ter
XM_024453098.1:c.80497G>T (TTN)	XP_024308866.1:p.Glu26833Ter
XM_024453099.1:c.62260G>T (TTN)	XP_024308867.1:p.Glu20754Ter
XM_024453100.1:c.52114G>T (TTN)	XP_024308868.1:p.Glu17372Ter