Canonical Allele Identifier: CA349610701

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433464C>G (hg19) ; chr2:g.178568737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568737C>G , CM000664.2:g.178568737C>G	GRCh38
NC_000002.11:g.179433464C>G , CM000664.1:g.179433464C>G	GRCh37
NC_000002.10:g.179141710C>G	NCBI36
NG_011618.3:g.267066G>C , LRG_391:g.267066G>C
NG_051363.1:g.50911C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69691G>C (TTN)	ENSP00000343764.6:p.Asp23231His
ENST00000342175.11:c.50776G>C (TTN)	ENSP00000340554.6:p.Asp16926His
ENST00000359218.10:c.50575G>C (TTN)	ENSP00000352154.5:p.Asp16859His
ENST00000342175.10:c.50776G>C (TTN)	ENSP00000340554.6:p.Asp16926His
ENST00000342992.10:c.69691G>C (TTN)	ENSP00000343764.6:p.Asp23231His
ENST00000359218.9:c.50575G>C (TTN)	ENSP00000352154.5:p.Asp16859His
ENST00000460472.6:c.50200G>C (TTN)	ENSP00000434586.1:p.Asp16734His
ENST00000589042.5:c.77395G>C (TTN) MANE Select	ENSP00000467141.1:p.Asp25799His
ENST00000591111.5:c.72472G>C (TTN)	ENSP00000465570.1:p.Asp24158His
ENST00000615779.4:c.72472G>C (TTN)	ENSP00000483597.1:p.Asp24158His
NM_001256850.1:c.72472G>C (TTN)	NP_001243779.1:p.Asp24158His
NM_001267550.2:c.77395G>C (TTN) MANE Select	NP_001254479.2:p.Asp25799His
NM_003319.4:c.50200G>C (TTN)	NP_003310.4:p.Asp16734His
NM_133378.4:c.69691G>C (TTN)	NP_596869.4:p.Asp23231His
NM_133432.3:c.50575G>C (TTN)	NP_597676.3:p.Asp16859His
NM_133437.4:c.50776G>C (TTN)	NP_597681.4:p.Asp16926His
NR_038271.1:n.447-2563C>G (TTN-AS1)
NR_038272.1:n.2044-13835C>G (TTN-AS1)
XM_011511729.1:c.76492G>C (TTN)	XP_011510031.1:p.Asp25498His
XM_011511730.1:c.50386G>C (TTN)	XP_011510032.1:p.Asp16796His
XM_011511731.1:c.50245G>C (TTN)	XP_011510033.1:p.Asp16749His
XM_017004819.1:c.76288G>C (TTN)	XP_016860308.1:p.Asp25430His
XM_017004820.1:c.71686G>C (TTN)	XP_016860309.1:p.Asp23896His
XM_017004821.1:c.71683G>C (TTN)	XP_016860310.1:p.Asp23895His
XM_017004822.1:c.68725G>C (TTN)	XP_016860311.1:p.Asp22909His
XM_017004823.1:c.50341G>C (TTN)	XP_016860312.1:p.Asp16781His
XM_024453094.1:c.71836G>C (TTN)	XP_024308862.1:p.Asp23946His
XM_024453095.1:c.71833G>C (TTN)	XP_024308863.1:p.Asp23945His
XM_024453096.1:c.71266G>C (TTN)	XP_024308864.1:p.Asp23756His
XM_024453097.1:c.68608G>C (TTN)	XP_024308865.1:p.Asp22870His
XM_024453098.1:c.68527G>C (TTN)	XP_024308866.1:p.Asp22843His
XM_024453099.1:c.50290G>C (TTN)	XP_024308867.1:p.Asp16764His
XM_024453100.1:c.40144G>C (TTN)	XP_024308868.1:p.Asp13382His