Canonical Allele Identifier: CA430239279

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179402286A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178537559A>G , CM000664.2:g.178537559A>G	GRCh38
NC_000002.11:g.179402286A>G , CM000664.1:g.179402286A>G	GRCh37
NC_000002.10:g.179110532A>G	NCBI36
NG_011618.3:g.298244T>C , LRG_391:g.298244T>C
NG_051363.1:g.19733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.91944T>C (TTN)	ENSP00000343764.6:p.Leu30648=
ENST00000342175.11:c.73029T>C (TTN)	ENSP00000340554.6:p.Leu24343=
ENST00000359218.10:c.72828T>C (TTN)	ENSP00000352154.5:p.Leu24276=
ENST00000342175.10:c.73029T>C (TTN)	ENSP00000340554.6:p.Leu24343=
ENST00000342992.10:c.91944T>C (TTN)	ENSP00000343764.6:p.Leu30648=
ENST00000359218.9:c.72828T>C (TTN)	ENSP00000352154.5:p.Leu24276=
ENST00000460472.6:c.72453T>C (TTN)	ENSP00000434586.1:p.Leu24151=
ENST00000589042.5:c.99648T>C (TTN) MANE Select	ENSP00000467141.1:p.Leu33216=
ENST00000591111.5:c.94725T>C (TTN)	ENSP00000465570.1:p.Leu31575=
ENST00000615779.4:c.94725T>C (TTN)	ENSP00000483597.1:p.Leu31575=
NM_001256850.1:c.94725T>C (TTN)	NP_001243779.1:p.Leu31575=
NM_001267550.2:c.99648T>C (TTN) MANE Select	NP_001254479.2:p.Leu33216=
NM_003319.4:c.72453T>C (TTN)	NP_003310.4:p.Leu24151=
NM_133378.4:c.91944T>C (TTN)	NP_596869.4:p.Leu30648=
NM_133432.3:c.72828T>C (TTN)	NP_597676.3:p.Leu24276=
NM_133437.4:c.73029T>C (TTN)	NP_597681.4:p.Leu24343=
NR_038271.1:n.446+13923A>G (TTN-AS1)
NR_038272.1:n.515A>G (TTN-AS1)
XM_011511729.1:c.98745T>C (TTN)	XP_011510031.1:p.Leu32915=
XM_011511730.1:c.72639T>C (TTN)	XP_011510032.1:p.Leu24213=
XM_011511731.1:c.72498T>C (TTN)	XP_011510033.1:p.Leu24166=
XM_017004819.1:c.98541T>C (TTN)	XP_016860308.1:p.Leu32847=
XM_017004820.1:c.93939T>C (TTN)	XP_016860309.1:p.Leu31313=
XM_017004821.1:c.93936T>C (TTN)	XP_016860310.1:p.Leu31312=
XM_017004822.1:c.90978T>C (TTN)	XP_016860311.1:p.Leu30326=
XM_017004823.1:c.72594T>C (TTN)	XP_016860312.1:p.Leu24198=
XM_024453094.1:c.94089T>C (TTN)	XP_024308862.1:p.Leu31363=
XM_024453095.1:c.94086T>C (TTN)	XP_024308863.1:p.Leu31362=
XM_024453096.1:c.93519T>C (TTN)	XP_024308864.1:p.Leu31173=
XM_024453097.1:c.90861T>C (TTN)	XP_024308865.1:p.Leu30287=
XM_024453098.1:c.90780T>C (TTN)	XP_024308866.1:p.Leu30260=
XM_024453099.1:c.72543T>C (TTN)	XP_024308867.1:p.Leu24181=
XM_024453100.1:c.62397T>C (TTN)	XP_024308868.1:p.Leu20799=