Canonical Allele Identifier: CA430245606

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417393G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552666G>T , CM000664.2:g.178552666G>T	GRCh38
NC_000002.11:g.179417393G>T , CM000664.1:g.179417393G>T	GRCh37
NC_000002.10:g.179125639G>T	NCBI36
NG_011618.3:g.283137C>A , LRG_391:g.283137C>A
NG_051363.1:g.34840G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82530C>A (TTN)	ENSP00000343764.6:p.Ser27510=
ENST00000342175.11:c.63615C>A (TTN)	ENSP00000340554.6:p.Ser21205=
ENST00000359218.10:c.63414C>A (TTN)	ENSP00000352154.5:p.Ser21138=
ENST00000342175.10:c.63615C>A (TTN)	ENSP00000340554.6:p.Ser21205=
ENST00000342992.10:c.82530C>A (TTN)	ENSP00000343764.6:p.Ser27510=
ENST00000359218.9:c.63414C>A (TTN)	ENSP00000352154.5:p.Ser21138=
ENST00000460472.6:c.63039C>A (TTN)	ENSP00000434586.1:p.Ser21013=
ENST00000589042.5:c.90234C>A (TTN) MANE Select	ENSP00000467141.1:p.Ser30078=
ENST00000591111.5:c.85311C>A (TTN)	ENSP00000465570.1:p.Ser28437=
ENST00000615779.4:c.85311C>A (TTN)	ENSP00000483597.1:p.Ser28437=
NM_001256850.1:c.85311C>A (TTN)	NP_001243779.1:p.Ser28437=
NM_001267550.2:c.90234C>A (TTN) MANE Select	NP_001254479.2:p.Ser30078=
NM_003319.4:c.63039C>A (TTN)	NP_003310.4:p.Ser21013=
NM_133378.4:c.82530C>A (TTN)	NP_596869.4:p.Ser27510=
NM_133432.3:c.63414C>A (TTN)	NP_597676.3:p.Ser21138=
NM_133437.4:c.63615C>A (TTN)	NP_597681.4:p.Ser21205=
NR_038271.1:n.447-18634G>T (TTN-AS1)
NR_038272.1:n.2043+10305G>T (TTN-AS1)
XM_011511729.1:c.89331C>A (TTN)	XP_011510031.1:p.Ser29777=
XM_011511730.1:c.63225C>A (TTN)	XP_011510032.1:p.Ser21075=
XM_011511731.1:c.63084C>A (TTN)	XP_011510033.1:p.Ser21028=
XM_017004819.1:c.89127C>A (TTN)	XP_016860308.1:p.Ser29709=
XM_017004820.1:c.84525C>A (TTN)	XP_016860309.1:p.Ser28175=
XM_017004821.1:c.84522C>A (TTN)	XP_016860310.1:p.Ser28174=
XM_017004822.1:c.81564C>A (TTN)	XP_016860311.1:p.Ser27188=
XM_017004823.1:c.63180C>A (TTN)	XP_016860312.1:p.Ser21060=
XM_024453094.1:c.84675C>A (TTN)	XP_024308862.1:p.Ser28225=
XM_024453095.1:c.84672C>A (TTN)	XP_024308863.1:p.Ser28224=
XM_024453096.1:c.84105C>A (TTN)	XP_024308864.1:p.Ser28035=
XM_024453097.1:c.81447C>A (TTN)	XP_024308865.1:p.Ser27149=
XM_024453098.1:c.81366C>A (TTN)	XP_024308866.1:p.Ser27122=
XM_024453099.1:c.63129C>A (TTN)	XP_024308867.1:p.Ser21043=
XM_024453100.1:c.52983C>A (TTN)	XP_024308868.1:p.Ser17661=