Canonical Allele Identifier: CA430094013

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179394814G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530087G>C , CM000664.2:g.178530087G>C	GRCh38
NC_000002.11:g.179394814G>C , CM000664.1:g.179394814G>C	GRCh37
NC_000002.10:g.179103060G>C	NCBI36
NG_011618.3:g.305716C>G , LRG_391:g.305716C>G
NG_051363.1:g.12261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98700C>G (TTN)	ENSP00000343764.6:p.Leu32900=
ENST00000342175.11:c.79785C>G (TTN)	ENSP00000340554.6:p.Leu26595=
ENST00000359218.10:c.79584C>G (TTN)	ENSP00000352154.5:p.Leu26528=
ENST00000342175.10:c.79785C>G (TTN)	ENSP00000340554.6:p.Leu26595=
ENST00000342992.10:c.98700C>G (TTN)	ENSP00000343764.6:p.Leu32900=
ENST00000359218.9:c.79584C>G (TTN)	ENSP00000352154.5:p.Leu26528=
ENST00000460472.6:c.79209C>G (TTN)	ENSP00000434586.1:p.Leu26403=
ENST00000589042.5:c.106404C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu35468=
ENST00000591111.5:c.101481C>G (TTN)	ENSP00000465570.1:p.Leu33827=
ENST00000615779.4:c.101481C>G (TTN)	ENSP00000483597.1:p.Leu33827=
NM_001256850.1:c.101481C>G (TTN)	NP_001243779.1:p.Leu33827=
NM_001267550.2:c.106404C>G (TTN) MANE Select	NP_001254479.2:p.Leu35468=
NM_003319.4:c.79209C>G (TTN)	NP_003310.4:p.Leu26403=
NM_133378.4:c.98700C>G (TTN)	NP_596869.4:p.Leu32900=
NM_133432.3:c.79584C>G (TTN)	NP_597676.3:p.Leu26528=
NM_133437.4:c.79785C>G (TTN)	NP_597681.4:p.Leu26595=
NR_038271.1:n.446+6451G>C (TTN-AS1)
NR_038272.1:n.220-5645G>C (TTN-AS1)
XM_011511729.1:c.105501C>G (TTN)	XP_011510031.1:p.Leu35167=
XM_011511730.1:c.79395C>G (TTN)	XP_011510032.1:p.Leu26465=
XM_011511731.1:c.79254C>G (TTN)	XP_011510033.1:p.Leu26418=
XM_017004819.1:c.105297C>G (TTN)	XP_016860308.1:p.Leu35099=
XM_017004820.1:c.100695C>G (TTN)	XP_016860309.1:p.Leu33565=
XM_017004821.1:c.100692C>G (TTN)	XP_016860310.1:p.Leu33564=
XM_017004822.1:c.97734C>G (TTN)	XP_016860311.1:p.Leu32578=
XM_017004823.1:c.79350C>G (TTN)	XP_016860312.1:p.Leu26450=
XM_024453094.1:c.100845C>G (TTN)	XP_024308862.1:p.Leu33615=
XM_024453095.1:c.100842C>G (TTN)	XP_024308863.1:p.Leu33614=
XM_024453096.1:c.100275C>G (TTN)	XP_024308864.1:p.Leu33425=
XM_024453097.1:c.97617C>G (TTN)	XP_024308865.1:p.Leu32539=
XM_024453098.1:c.97536C>G (TTN)	XP_024308866.1:p.Leu32512=
XM_024453099.1:c.79299C>G (TTN)	XP_024308867.1:p.Leu26433=
XM_024453100.1:c.69153C>G (TTN)	XP_024308868.1:p.Leu23051=