Canonical Allele Identifier: CA349581100

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429232C>G (hg19) ; chr2:g.178564505C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564505C>G , CM000664.2:g.178564505C>G	GRCh38
NC_000002.11:g.179429232C>G , CM000664.1:g.179429232C>G	GRCh37
NC_000002.10:g.179137478C>G	NCBI36
NG_011618.3:g.271298G>C , LRG_391:g.271298G>C
NG_051363.1:g.46679C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73923G>C (TTN)	ENSP00000343764.6:p.Lys24641Asn
ENST00000342175.11:c.55008G>C (TTN)	ENSP00000340554.6:p.Lys18336Asn
ENST00000359218.10:c.54807G>C (TTN)	ENSP00000352154.5:p.Lys18269Asn
ENST00000342175.10:c.55008G>C (TTN)	ENSP00000340554.6:p.Lys18336Asn
ENST00000342992.10:c.73923G>C (TTN)	ENSP00000343764.6:p.Lys24641Asn
ENST00000359218.9:c.54807G>C (TTN)	ENSP00000352154.5:p.Lys18269Asn
ENST00000460472.6:c.54432G>C (TTN)	ENSP00000434586.1:p.Lys18144Asn
ENST00000589042.5:c.81627G>C (TTN) MANE Select	ENSP00000467141.1:p.Lys27209Asn
ENST00000591111.5:c.76704G>C (TTN)	ENSP00000465570.1:p.Lys25568Asn
ENST00000615779.4:c.76704G>C (TTN)	ENSP00000483597.1:p.Lys25568Asn
NM_001256850.1:c.76704G>C (TTN)	NP_001243779.1:p.Lys25568Asn
NM_001267550.2:c.81627G>C (TTN) MANE Select	NP_001254479.2:p.Lys27209Asn
NM_003319.4:c.54432G>C (TTN)	NP_003310.4:p.Lys18144Asn
NM_133378.4:c.73923G>C (TTN)	NP_596869.4:p.Lys24641Asn
NM_133432.3:c.54807G>C (TTN)	NP_597676.3:p.Lys18269Asn
NM_133437.4:c.55008G>C (TTN)	NP_597681.4:p.Lys18336Asn
NR_038271.1:n.447-6795C>G (TTN-AS1)
NR_038272.1:n.2044-18067C>G (TTN-AS1)
XM_011511729.1:c.80724G>C (TTN)	XP_011510031.1:p.Lys26908Asn
XM_011511730.1:c.54618G>C (TTN)	XP_011510032.1:p.Lys18206Asn
XM_011511731.1:c.54477G>C (TTN)	XP_011510033.1:p.Lys18159Asn
XM_017004819.1:c.80520G>C (TTN)	XP_016860308.1:p.Lys26840Asn
XM_017004820.1:c.75918G>C (TTN)	XP_016860309.1:p.Lys25306Asn
XM_017004821.1:c.75915G>C (TTN)	XP_016860310.1:p.Lys25305Asn
XM_017004822.1:c.72957G>C (TTN)	XP_016860311.1:p.Lys24319Asn
XM_017004823.1:c.54573G>C (TTN)	XP_016860312.1:p.Lys18191Asn
XM_024453094.1:c.76068G>C (TTN)	XP_024308862.1:p.Lys25356Asn
XM_024453095.1:c.76065G>C (TTN)	XP_024308863.1:p.Lys25355Asn
XM_024453096.1:c.75498G>C (TTN)	XP_024308864.1:p.Lys25166Asn
XM_024453097.1:c.72840G>C (TTN)	XP_024308865.1:p.Lys24280Asn
XM_024453098.1:c.72759G>C (TTN)	XP_024308866.1:p.Lys24253Asn
XM_024453099.1:c.54522G>C (TTN)	XP_024308867.1:p.Lys18174Asn
XM_024453100.1:c.44376G>C (TTN)	XP_024308868.1:p.Lys14792Asn