Canonical Allele Identifier: CA430246312

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1559220440
• MyVariant Identifiers: chr2:g.179418374G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178553647G>A , CM000664.2:g.178553647G>A	GRCh38
NC_000002.11:g.179418374G>A , CM000664.1:g.179418374G>A	GRCh37
NC_000002.10:g.179126620G>A	NCBI36
NG_011618.3:g.282156C>T , LRG_391:g.282156C>T
NG_051363.1:g.35821G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.81654C>T (TTN)	ENSP00000343764.6:p.Thr27218=
ENST00000342175.11:c.62739C>T (TTN)	ENSP00000340554.6:p.Thr20913=
ENST00000359218.10:c.62538C>T (TTN)	ENSP00000352154.5:p.Thr20846=
ENST00000342175.10:c.62739C>T (TTN)	ENSP00000340554.6:p.Thr20913=
ENST00000342992.10:c.81654C>T (TTN)	ENSP00000343764.6:p.Thr27218=
ENST00000359218.9:c.62538C>T (TTN)	ENSP00000352154.5:p.Thr20846=
ENST00000460472.6:c.62163C>T (TTN)	ENSP00000434586.1:p.Thr20721=
ENST00000589042.5:c.89358C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr29786=
ENST00000591111.5:c.84435C>T (TTN)	ENSP00000465570.1:p.Thr28145=
ENST00000615779.4:c.84435C>T (TTN)	ENSP00000483597.1:p.Thr28145=
NM_001256850.1:c.84435C>T (TTN)	NP_001243779.1:p.Thr28145=
NM_001267550.2:c.89358C>T (TTN) MANE Select	NP_001254479.2:p.Thr29786=
NM_003319.4:c.62163C>T (TTN)	NP_003310.4:p.Thr20721=
NM_133378.4:c.81654C>T (TTN)	NP_596869.4:p.Thr27218=
NM_133432.3:c.62538C>T (TTN)	NP_597676.3:p.Thr20846=
NM_133437.4:c.62739C>T (TTN)	NP_597681.4:p.Thr20913=
NR_038271.1:n.447-17653G>A (TTN-AS1)
NR_038272.1:n.2043+11286G>A (TTN-AS1)
XM_011511729.1:c.88455C>T (TTN)	XP_011510031.1:p.Thr29485=
XM_011511730.1:c.62349C>T (TTN)	XP_011510032.1:p.Thr20783=
XM_011511731.1:c.62208C>T (TTN)	XP_011510033.1:p.Thr20736=
XM_017004819.1:c.88251C>T (TTN)	XP_016860308.1:p.Thr29417=
XM_017004820.1:c.83649C>T (TTN)	XP_016860309.1:p.Thr27883=
XM_017004821.1:c.83646C>T (TTN)	XP_016860310.1:p.Thr27882=
XM_017004822.1:c.80688C>T (TTN)	XP_016860311.1:p.Thr26896=
XM_017004823.1:c.62304C>T (TTN)	XP_016860312.1:p.Thr20768=
XM_024453094.1:c.83799C>T (TTN)	XP_024308862.1:p.Thr27933=
XM_024453095.1:c.83796C>T (TTN)	XP_024308863.1:p.Thr27932=
XM_024453096.1:c.83229C>T (TTN)	XP_024308864.1:p.Thr27743=
XM_024453097.1:c.80571C>T (TTN)	XP_024308865.1:p.Thr26857=
XM_024453098.1:c.80490C>T (TTN)	XP_024308866.1:p.Thr26830=
XM_024453099.1:c.62253C>T (TTN)	XP_024308867.1:p.Thr20751=
XM_024453100.1:c.52107C>T (TTN)	XP_024308868.1:p.Thr17369=