Canonical Allele Identifier: CA349425388

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400891T>G (hg19) ; chr2:g.178536164T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536164T>G , CM000664.2:g.178536164T>G	GRCh38
NC_000002.11:g.179400891T>G , CM000664.1:g.179400891T>G	GRCh37
NC_000002.10:g.179109137T>G	NCBI36
NG_011618.3:g.299639A>C , LRG_391:g.299639A>C
NG_051363.1:g.18338T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92879A>C (TTN)	ENSP00000343764.6:p.Lys30960Thr
ENST00000342175.11:c.73964A>C (TTN)	ENSP00000340554.6:p.Lys24655Thr
ENST00000359218.10:c.73763A>C (TTN)	ENSP00000352154.5:p.Lys24588Thr
ENST00000342175.10:c.73964A>C (TTN)	ENSP00000340554.6:p.Lys24655Thr
ENST00000342992.10:c.92879A>C (TTN)	ENSP00000343764.6:p.Lys30960Thr
ENST00000359218.9:c.73763A>C (TTN)	ENSP00000352154.5:p.Lys24588Thr
ENST00000460472.6:c.73388A>C (TTN)	ENSP00000434586.1:p.Lys24463Thr
ENST00000589042.5:c.100583A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys33528Thr
ENST00000591111.5:c.95660A>C (TTN)	ENSP00000465570.1:p.Lys31887Thr
ENST00000615779.4:c.95660A>C (TTN)	ENSP00000483597.1:p.Lys31887Thr
NM_001256850.1:c.95660A>C (TTN)	NP_001243779.1:p.Lys31887Thr
NM_001267550.2:c.100583A>C (TTN) MANE Select	NP_001254479.2:p.Lys33528Thr
NM_003319.4:c.73388A>C (TTN)	NP_003310.4:p.Lys24463Thr
NM_133378.4:c.92879A>C (TTN)	NP_596869.4:p.Lys30960Thr
NM_133432.3:c.73763A>C (TTN)	NP_597676.3:p.Lys24588Thr
NM_133437.4:c.73964A>C (TTN)	NP_597681.4:p.Lys24655Thr
NR_038271.1:n.446+12528T>G (TTN-AS1)
NR_038272.1:n.316+336T>G (TTN-AS1)
XM_011511729.1:c.99680A>C (TTN)	XP_011510031.1:p.Lys33227Thr
XM_011511730.1:c.73574A>C (TTN)	XP_011510032.1:p.Lys24525Thr
XM_011511731.1:c.73433A>C (TTN)	XP_011510033.1:p.Lys24478Thr
XM_017004819.1:c.99476A>C (TTN)	XP_016860308.1:p.Lys33159Thr
XM_017004820.1:c.94874A>C (TTN)	XP_016860309.1:p.Lys31625Thr
XM_017004821.1:c.94871A>C (TTN)	XP_016860310.1:p.Lys31624Thr
XM_017004822.1:c.91913A>C (TTN)	XP_016860311.1:p.Lys30638Thr
XM_017004823.1:c.73529A>C (TTN)	XP_016860312.1:p.Lys24510Thr
XM_024453094.1:c.95024A>C (TTN)	XP_024308862.1:p.Lys31675Thr
XM_024453095.1:c.95021A>C (TTN)	XP_024308863.1:p.Lys31674Thr
XM_024453096.1:c.94454A>C (TTN)	XP_024308864.1:p.Lys31485Thr
XM_024453097.1:c.91796A>C (TTN)	XP_024308865.1:p.Lys30599Thr
XM_024453098.1:c.91715A>C (TTN)	XP_024308866.1:p.Lys30572Thr
XM_024453099.1:c.73478A>C (TTN)	XP_024308867.1:p.Lys24493Thr
XM_024453100.1:c.63332A>C (TTN)	XP_024308868.1:p.Lys21111Thr