Canonical Allele Identifier: CA430259681

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442725C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178577998C>G , CM000664.2:g.178577998C>G	GRCh38
NC_000002.11:g.179442725C>G , CM000664.1:g.179442725C>G	GRCh37
NC_000002.10:g.179150971C>G	NCBI36
NG_011618.3:g.257805G>C , LRG_391:g.257805G>C
NG_051363.1:g.60172C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60813G>C (TTN)	ENSP00000343764.6:p.Leu20271=
ENST00000342175.11:c.41898G>C (TTN)	ENSP00000340554.6:p.Leu13966=
ENST00000359218.10:c.41697G>C (TTN)	ENSP00000352154.5:p.Leu13899=
ENST00000342175.10:c.41898G>C (TTN)	ENSP00000340554.6:p.Leu13966=
ENST00000342992.10:c.60813G>C (TTN)	ENSP00000343764.6:p.Leu20271=
ENST00000359218.9:c.41697G>C (TTN)	ENSP00000352154.5:p.Leu13899=
ENST00000460472.6:c.41322G>C (TTN)	ENSP00000434586.1:p.Leu13774=
ENST00000589042.5:c.68517G>C (TTN) MANE Select	ENSP00000467141.1:p.Leu22839=
ENST00000591111.5:c.63594G>C (TTN)	ENSP00000465570.1:p.Leu21198=
ENST00000615779.4:c.63594G>C (TTN)	ENSP00000483597.1:p.Leu21198=
NM_001256850.1:c.63594G>C (TTN)	NP_001243779.1:p.Leu21198=
NM_001267550.2:c.68517G>C (TTN) MANE Select	NP_001254479.2:p.Leu22839=
NM_003319.4:c.41322G>C (TTN)	NP_003310.4:p.Leu13774=
NM_133378.4:c.60813G>C (TTN)	NP_596869.4:p.Leu20271=
NM_133432.3:c.41697G>C (TTN)	NP_597676.3:p.Leu13899=
NM_133437.4:c.41898G>C (TTN)	NP_597681.4:p.Leu13966=
NR_038271.1:n.596+6549C>G (TTN-AS1)
NR_038272.1:n.2044-4574C>G (TTN-AS1)
XM_011511729.1:c.67614G>C (TTN)	XP_011510031.1:p.Leu22538=
XM_011511730.1:c.41508G>C (TTN)	XP_011510032.1:p.Leu13836=
XM_011511731.1:c.41367G>C (TTN)	XP_011510033.1:p.Leu13789=
XM_017004819.1:c.67410G>C (TTN)	XP_016860308.1:p.Leu22470=
XM_017004820.1:c.62808G>C (TTN)	XP_016860309.1:p.Leu20936=
XM_017004821.1:c.62805G>C (TTN)	XP_016860310.1:p.Leu20935=
XM_017004822.1:c.59847G>C (TTN)	XP_016860311.1:p.Leu19949=
XM_017004823.1:c.41463G>C (TTN)	XP_016860312.1:p.Leu13821=
XM_024453094.1:c.62958G>C (TTN)	XP_024308862.1:p.Leu20986=
XM_024453095.1:c.62955G>C (TTN)	XP_024308863.1:p.Leu20985=
XM_024453096.1:c.62388G>C (TTN)	XP_024308864.1:p.Leu20796=
XM_024453097.1:c.59730G>C (TTN)	XP_024308865.1:p.Leu19910=
XM_024453098.1:c.59649G>C (TTN)	XP_024308866.1:p.Leu19883=
XM_024453099.1:c.41412G>C (TTN)	XP_024308867.1:p.Leu13804=
XM_024453100.1:c.31266G>C (TTN)	XP_024308868.1:p.Leu10422=