Canonical Allele Identifier: CA430253533

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154167319
• MyVariant Identifiers: chr2:g.179433570T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568843T>C , CM000664.2:g.178568843T>C	GRCh38
NC_000002.11:g.179433570T>C , CM000664.1:g.179433570T>C	GRCh37
NC_000002.10:g.179141816T>C	NCBI36
NG_011618.3:g.266960A>G , LRG_391:g.266960A>G
NG_051363.1:g.51017T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69585A>G (TTN)	ENSP00000343764.6:p.Gln23195=
ENST00000342175.11:c.50670A>G (TTN)	ENSP00000340554.6:p.Gln16890=
ENST00000359218.10:c.50469A>G (TTN)	ENSP00000352154.5:p.Gln16823=
ENST00000342175.10:c.50670A>G (TTN)	ENSP00000340554.6:p.Gln16890=
ENST00000342992.10:c.69585A>G (TTN)	ENSP00000343764.6:p.Gln23195=
ENST00000359218.9:c.50469A>G (TTN)	ENSP00000352154.5:p.Gln16823=
ENST00000460472.6:c.50094A>G (TTN)	ENSP00000434586.1:p.Gln16698=
ENST00000589042.5:c.77289A>G (TTN) MANE Select	ENSP00000467141.1:p.Gln25763=
ENST00000591111.5:c.72366A>G (TTN)	ENSP00000465570.1:p.Gln24122=
ENST00000615779.4:c.72366A>G (TTN)	ENSP00000483597.1:p.Gln24122=
NM_001256850.1:c.72366A>G (TTN)	NP_001243779.1:p.Gln24122=
NM_001267550.2:c.77289A>G (TTN) MANE Select	NP_001254479.2:p.Gln25763=
NM_003319.4:c.50094A>G (TTN)	NP_003310.4:p.Gln16698=
NM_133378.4:c.69585A>G (TTN)	NP_596869.4:p.Gln23195=
NM_133432.3:c.50469A>G (TTN)	NP_597676.3:p.Gln16823=
NM_133437.4:c.50670A>G (TTN)	NP_597681.4:p.Gln16890=
NR_038271.1:n.447-2457T>C (TTN-AS1)
NR_038272.1:n.2044-13729T>C (TTN-AS1)
XM_011511729.1:c.76386A>G (TTN)	XP_011510031.1:p.Gln25462=
XM_011511730.1:c.50280A>G (TTN)	XP_011510032.1:p.Gln16760=
XM_011511731.1:c.50139A>G (TTN)	XP_011510033.1:p.Gln16713=
XM_017004819.1:c.76182A>G (TTN)	XP_016860308.1:p.Gln25394=
XM_017004820.1:c.71580A>G (TTN)	XP_016860309.1:p.Gln23860=
XM_017004821.1:c.71577A>G (TTN)	XP_016860310.1:p.Gln23859=
XM_017004822.1:c.68619A>G (TTN)	XP_016860311.1:p.Gln22873=
XM_017004823.1:c.50235A>G (TTN)	XP_016860312.1:p.Gln16745=
XM_024453094.1:c.71730A>G (TTN)	XP_024308862.1:p.Gln23910=
XM_024453095.1:c.71727A>G (TTN)	XP_024308863.1:p.Gln23909=
XM_024453096.1:c.71160A>G (TTN)	XP_024308864.1:p.Gln23720=
XM_024453097.1:c.68502A>G (TTN)	XP_024308865.1:p.Gln22834=
XM_024453098.1:c.68421A>G (TTN)	XP_024308866.1:p.Gln22807=
XM_024453099.1:c.50184A>G (TTN)	XP_024308867.1:p.Gln16728=
XM_024453100.1:c.40038A>G (TTN)	XP_024308868.1:p.Gln13346=