Canonical Allele Identifier: CA349618774

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482939G>C (hg19) ; chr2:g.178618212G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618212G>C , CM000664.2:g.178618212G>C	GRCh38
NC_000002.11:g.179482939G>C , CM000664.1:g.179482939G>C	GRCh37
NC_000002.10:g.179191184G>C	NCBI36
NG_011618.3:g.217591C>G , LRG_391:g.217591C>G
NG_051363.1:g.100386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39542C>G (TTN)	ENSP00000343764.6:p.Pro13181Arg
ENST00000342175.11:c.20627C>G (TTN)	ENSP00000340554.6:p.Pro6876Arg
ENST00000359218.10:c.20426C>G (TTN)	ENSP00000352154.5:p.Pro6809Arg
ENST00000342175.10:c.20627C>G (TTN)	ENSP00000340554.6:p.Pro6876Arg
ENST00000342992.10:c.39542C>G (TTN)	ENSP00000343764.6:p.Pro13181Arg
ENST00000359218.9:c.20426C>G (TTN)	ENSP00000352154.5:p.Pro6809Arg
ENST00000460472.6:c.20051C>G (TTN)	ENSP00000434586.1:p.Pro6684Arg
ENST00000589042.5:c.47246C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro15749Arg
ENST00000591111.5:c.42323C>G (TTN)	ENSP00000465570.1:p.Pro14108Arg
ENST00000615779.4:c.42323C>G (TTN)	ENSP00000483597.1:p.Pro14108Arg
NM_001256850.1:c.42323C>G (TTN)	NP_001243779.1:p.Pro14108Arg
NM_001267550.2:c.47246C>G (TTN) MANE Select	NP_001254479.2:p.Pro15749Arg
NM_003319.4:c.20051C>G (TTN)	NP_003310.4:p.Pro6684Arg
NM_133378.4:c.39542C>G (TTN)	NP_596869.4:p.Pro13181Arg
NM_133432.3:c.20426C>G (TTN)	NP_597676.3:p.Pro6809Arg
NM_133437.4:c.20627C>G (TTN)	NP_597681.4:p.Pro6876Arg
NR_038271.1:n.1605-1541G>C (TTN-AS1)
XM_011511729.1:c.46343C>G (TTN)	XP_011510031.1:p.Pro15448Arg
XM_011511730.1:c.20237C>G (TTN)	XP_011510032.1:p.Pro6746Arg
XM_011511731.1:c.20096C>G (TTN)	XP_011510033.1:p.Pro6699Arg
XM_017004819.1:c.46139C>G (TTN)	XP_016860308.1:p.Pro15380Arg
XM_017004820.1:c.41537C>G (TTN)	XP_016860309.1:p.Pro13846Arg
XM_017004821.1:c.41534C>G (TTN)	XP_016860310.1:p.Pro13845Arg
XM_017004822.1:c.38576C>G (TTN)	XP_016860311.1:p.Pro12859Arg
XM_017004823.1:c.20192C>G (TTN)	XP_016860312.1:p.Pro6731Arg
XM_024453094.1:c.41687C>G (TTN)	XP_024308862.1:p.Pro13896Arg
XM_024453095.1:c.41684C>G (TTN)	XP_024308863.1:p.Pro13895Arg
XM_024453096.1:c.41117C>G (TTN)	XP_024308864.1:p.Pro13706Arg
XM_024453097.1:c.38459C>G (TTN)	XP_024308865.1:p.Pro12820Arg
XM_024453098.1:c.38378C>G (TTN)	XP_024308866.1:p.Pro12793Arg
XM_024453099.1:c.20141C>G (TTN)	XP_024308867.1:p.Pro6714Arg
XM_024453100.1:c.9995C>G (TTN)	XP_024308868.1:p.Pro3332Arg