Canonical Allele Identifier: CA430241709

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178543937-C-T
• MyVariant Identifiers: chr2:g.179408664C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543937C>T , CM000664.2:g.178543937C>T	GRCh38
NC_000002.11:g.179408664C>T , CM000664.1:g.179408664C>T	GRCh37
NC_000002.10:g.179116910C>T	NCBI36
NG_011618.3:g.291866G>A , LRG_391:g.291866G>A
NG_051363.1:g.26111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88503G>A (TTN)	ENSP00000343764.6:p.Leu29501=
ENST00000342175.11:c.69588G>A (TTN)	ENSP00000340554.6:p.Leu23196=
ENST00000359218.10:c.69387G>A (TTN)	ENSP00000352154.5:p.Leu23129=
ENST00000342175.10:c.69588G>A (TTN)	ENSP00000340554.6:p.Leu23196=
ENST00000342992.10:c.88503G>A (TTN)	ENSP00000343764.6:p.Leu29501=
ENST00000359218.9:c.69387G>A (TTN)	ENSP00000352154.5:p.Leu23129=
ENST00000460472.6:c.69012G>A (TTN)	ENSP00000434586.1:p.Leu23004=
ENST00000589042.5:c.96207G>A (TTN) MANE Select	ENSP00000467141.1:p.Leu32069=
ENST00000591111.5:c.91284G>A (TTN)	ENSP00000465570.1:p.Leu30428=
ENST00000615779.4:c.91284G>A (TTN)	ENSP00000483597.1:p.Leu30428=
NM_001256850.1:c.91284G>A (TTN)	NP_001243779.1:p.Leu30428=
NM_001267550.2:c.96207G>A (TTN) MANE Select	NP_001254479.2:p.Leu32069=
NM_003319.4:c.69012G>A (TTN)	NP_003310.4:p.Leu23004=
NM_133378.4:c.88503G>A (TTN)	NP_596869.4:p.Leu29501=
NM_133432.3:c.69387G>A (TTN)	NP_597676.3:p.Leu23129=
NM_133437.4:c.69588G>A (TTN)	NP_597681.4:p.Leu23196=
NR_038271.1:n.446+20301C>T (TTN-AS1)
NR_038272.1:n.2043+1576C>T (TTN-AS1)
XM_011511729.1:c.95304G>A (TTN)	XP_011510031.1:p.Leu31768=
XM_011511730.1:c.69198G>A (TTN)	XP_011510032.1:p.Leu23066=
XM_011511731.1:c.69057G>A (TTN)	XP_011510033.1:p.Leu23019=
XM_017004819.1:c.95100G>A (TTN)	XP_016860308.1:p.Leu31700=
XM_017004820.1:c.90498G>A (TTN)	XP_016860309.1:p.Leu30166=
XM_017004821.1:c.90495G>A (TTN)	XP_016860310.1:p.Leu30165=
XM_017004822.1:c.87537G>A (TTN)	XP_016860311.1:p.Leu29179=
XM_017004823.1:c.69153G>A (TTN)	XP_016860312.1:p.Leu23051=
XM_024453094.1:c.90648G>A (TTN)	XP_024308862.1:p.Leu30216=
XM_024453095.1:c.90645G>A (TTN)	XP_024308863.1:p.Leu30215=
XM_024453096.1:c.90078G>A (TTN)	XP_024308864.1:p.Leu30026=
XM_024453097.1:c.87420G>A (TTN)	XP_024308865.1:p.Leu29140=
XM_024453098.1:c.87339G>A (TTN)	XP_024308866.1:p.Leu29113=
XM_024453099.1:c.69102G>A (TTN)	XP_024308867.1:p.Leu23034=
XM_024453100.1:c.58956G>A (TTN)	XP_024308868.1:p.Leu19652=