Canonical Allele Identifier: CA430257716

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2934643
• ClinVar RCV Id: RCV003798345
• dbSNP Id: rs1227079160
• gnomAD v2: 2-179439621-G-A
• gnomAD v3: 2-178574894-G-A
• gnomAD v4: 2-178574894-G-A
• MyVariant Identifiers: chr2:g.179439621G>A (hg19) ; chr2:g.178574894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574894G>A , CM000664.2:g.178574894G>A	GRCh38
NC_000002.11:g.179439621G>A , CM000664.1:g.179439621G>A	GRCh37
NC_000002.10:g.179147867G>A	NCBI36
NG_011618.3:g.260909C>T , LRG_391:g.260909C>T
NG_051363.1:g.57068G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63534C>T (TTN)	ENSP00000343764.6:p.Phe21178=
ENST00000342175.11:c.44619C>T (TTN)	ENSP00000340554.6:p.Phe14873=
ENST00000359218.10:c.44418C>T (TTN)	ENSP00000352154.5:p.Phe14806=
ENST00000342175.10:c.44619C>T (TTN)	ENSP00000340554.6:p.Phe14873=
ENST00000342992.10:c.63534C>T (TTN)	ENSP00000343764.6:p.Phe21178=
ENST00000359218.9:c.44418C>T (TTN)	ENSP00000352154.5:p.Phe14806=
ENST00000460472.6:c.44043C>T (TTN)	ENSP00000434586.1:p.Phe14681=
ENST00000589042.5:c.71238C>T (TTN) MANE Select	ENSP00000467141.1:p.Phe23746=
ENST00000591111.5:c.66315C>T (TTN)	ENSP00000465570.1:p.Phe22105=
ENST00000615779.4:c.66315C>T (TTN)	ENSP00000483597.1:p.Phe22105=
NM_001256850.1:c.66315C>T (TTN)	NP_001243779.1:p.Phe22105=
NM_001267550.2:c.71238C>T (TTN) MANE Select	NP_001254479.2:p.Phe23746=
NM_003319.4:c.44043C>T (TTN)	NP_003310.4:p.Phe14681=
NM_133378.4:c.63534C>T (TTN)	NP_596869.4:p.Phe21178=
NM_133432.3:c.44418C>T (TTN)	NP_597676.3:p.Phe14806=
NM_133437.4:c.44619C>T (TTN)	NP_597681.4:p.Phe14873=
NR_038271.1:n.596+3445G>A (TTN-AS1)
NR_038272.1:n.2044-7678G>A (TTN-AS1)
XM_011511729.1:c.70335C>T (TTN)	XP_011510031.1:p.Phe23445=
XM_011511730.1:c.44229C>T (TTN)	XP_011510032.1:p.Phe14743=
XM_011511731.1:c.44088C>T (TTN)	XP_011510033.1:p.Phe14696=
XM_017004819.1:c.70131C>T (TTN)	XP_016860308.1:p.Phe23377=
XM_017004820.1:c.65529C>T (TTN)	XP_016860309.1:p.Phe21843=
XM_017004821.1:c.65526C>T (TTN)	XP_016860310.1:p.Phe21842=
XM_017004822.1:c.62568C>T (TTN)	XP_016860311.1:p.Phe20856=
XM_017004823.1:c.44184C>T (TTN)	XP_016860312.1:p.Phe14728=
XM_024453094.1:c.65679C>T (TTN)	XP_024308862.1:p.Phe21893=
XM_024453095.1:c.65676C>T (TTN)	XP_024308863.1:p.Phe21892=
XM_024453096.1:c.65109C>T (TTN)	XP_024308864.1:p.Phe21703=
XM_024453097.1:c.62451C>T (TTN)	XP_024308865.1:p.Phe20817=
XM_024453098.1:c.62370C>T (TTN)	XP_024308866.1:p.Phe20790=
XM_024453099.1:c.44133C>T (TTN)	XP_024308867.1:p.Phe14711=
XM_024453100.1:c.33987C>T (TTN)	XP_024308868.1:p.Phe11329=