Canonical Allele Identifier: CA349398170

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs2154129767
• gnomAD v4: 2-178527029-G-T
• MyVariant Identifiers: chr2:g.179391756G>T (hg19) ; chr2:g.178527029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178527029G>T , CM000664.2:g.178527029G>T	GRCh38
NC_000002.11:g.179391756G>T , CM000664.1:g.179391756G>T	GRCh37
NC_000002.10:g.179100002G>T	NCBI36
NG_011618.3:g.308774C>A , LRG_391:g.308774C>A
NG_051363.1:g.9203G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.100255C>A (TTN)	ENSP00000343764.6:p.His33419Asn
ENST00000342175.11:c.81340C>A (TTN)	ENSP00000340554.6:p.His27114Asn
ENST00000359218.10:c.81139C>A (TTN)	ENSP00000352154.5:p.His27047Asn
ENST00000342175.10:c.81340C>A (TTN)	ENSP00000340554.6:p.His27114Asn
ENST00000342992.10:c.100255C>A (TTN)	ENSP00000343764.6:p.His33419Asn
ENST00000359218.9:c.81139C>A (TTN)	ENSP00000352154.5:p.His27047Asn
ENST00000460472.6:c.80764C>A (TTN)	ENSP00000434586.1:p.His26922Asn
ENST00000589042.5:c.107959C>A (TTN) MANE Select	ENSP00000467141.1:p.His35987Asn
ENST00000591111.5:c.103036C>A (TTN)	ENSP00000465570.1:p.His34346Asn
ENST00000615779.4:c.103036C>A (TTN)	ENSP00000483597.1:p.His34346Asn
NM_001256850.1:c.103036C>A (TTN)	NP_001243779.1:p.His34346Asn
NM_001267550.2:c.107959C>A (TTN) MANE Select	NP_001254479.2:p.His35987Asn
NM_003319.4:c.80764C>A (TTN)	NP_003310.4:p.His26922Asn
NM_133378.4:c.100255C>A (TTN)	NP_596869.4:p.His33419Asn
NM_133432.3:c.81139C>A (TTN)	NP_597676.3:p.His27047Asn
NM_133437.4:c.81340C>A (TTN)	NP_597681.4:p.His27114Asn
NR_038271.1:n.446+3393G>T (TTN-AS1)
NR_038272.1:n.219+3393G>T (TTN-AS1)
XM_011511729.1:c.107056C>A (TTN)	XP_011510031.1:p.His35686Asn
XM_011511730.1:c.80950C>A (TTN)	XP_011510032.1:p.His26984Asn
XM_011511731.1:c.80809C>A (TTN)	XP_011510033.1:p.His26937Asn
XM_017004819.1:c.106852C>A (TTN)	XP_016860308.1:p.His35618Asn
XM_017004820.1:c.102250C>A (TTN)	XP_016860309.1:p.His34084Asn
XM_017004821.1:c.102247C>A (TTN)	XP_016860310.1:p.His34083Asn
XM_017004822.1:c.99289C>A (TTN)	XP_016860311.1:p.His33097Asn
XM_017004823.1:c.80905C>A (TTN)	XP_016860312.1:p.His26969Asn
XM_024453094.1:c.102400C>A (TTN)	XP_024308862.1:p.His34134Asn
XM_024453095.1:c.102397C>A (TTN)	XP_024308863.1:p.His34133Asn
XM_024453096.1:c.101830C>A (TTN)	XP_024308864.1:p.His33944Asn
XM_024453097.1:c.99172C>A (TTN)	XP_024308865.1:p.His33058Asn
XM_024453098.1:c.99091C>A (TTN)	XP_024308866.1:p.His33031Asn
XM_024453099.1:c.80854C>A (TTN)	XP_024308867.1:p.His26952Asn
XM_024453100.1:c.70708C>A (TTN)	XP_024308868.1:p.His23570Asn