Canonical Allele Identifier: CA349635759

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179486381G>T (hg19) ; chr2:g.178621654G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621654G>T , CM000664.2:g.178621654G>T	GRCh38
NC_000002.11:g.179486381G>T , CM000664.1:g.179486381G>T	GRCh37
NC_000002.10:g.179194626G>T	NCBI36
NG_011618.3:g.214149C>A , LRG_391:g.214149C>A
NG_051363.1:g.103828G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37466C>A	ENSP00000343764.6:p.Pro12489His
ENST00000342175.11:c.18551C>A	ENSP00000340554.6:p.Pro6184His
ENST00000359218.10:c.18350C>A	ENSP00000352154.5:p.Pro6117His
ENST00000342175.10:c.18551C>A	ENSP00000340554.6:p.Pro6184His
ENST00000342992.10:c.37466C>A	ENSP00000343764.6:p.Pro12489His
ENST00000359218.9:c.18350C>A	ENSP00000352154.5:p.Pro6117His
ENST00000460472.6:c.17975C>A	ENSP00000434586.1:p.Pro5992His
ENST00000589042.5:c.45170C>A MANE Select	ENSP00000467141.1:p.Pro15057His
ENST00000591111.5:c.40247C>A	ENSP00000465570.1:p.Pro13416His
ENST00000615779.4:c.40247C>A	ENSP00000483597.1:p.Pro13416His
NM_001256850.1:c.40247C>A	NP_001243779.1:p.Pro13416His
NM_001267550.2:c.45170C>A MANE Select	NP_001254479.2:p.Pro15057His
NM_003319.4:c.17975C>A	NP_003310.4:p.Pro5992His
NM_133378.4:c.37466C>A	NP_596869.4:p.Pro12489His
NM_133432.3:c.18350C>A	NP_597676.3:p.Pro6117His
NM_133437.4:c.18551C>A	NP_597681.4:p.Pro6184His
XM_011511729.1:c.44267C>A	XP_011510031.1:p.Pro14756His
XM_011511730.1:c.18161C>A	XP_011510032.1:p.Pro6054His
XM_011511731.1:c.18020C>A	XP_011510033.1:p.Pro6007His
XM_017004819.1:c.44063C>A	XP_016860308.1:p.Pro14688His
XM_017004820.1:c.39461C>A	XP_016860309.1:p.Pro13154His
XM_017004821.1:c.39458C>A	XP_016860310.1:p.Pro13153His
XM_017004822.1:c.36500C>A	XP_016860311.1:p.Pro12167His
XM_017004823.1:c.18116C>A	XP_016860312.1:p.Pro6039His
XM_024453094.1:c.39611C>A	XP_024308862.1:p.Pro13204His
XM_024453095.1:c.39608C>A	XP_024308863.1:p.Pro13203His
XM_024453096.1:c.39041C>A	XP_024308864.1:p.Pro13014His
XM_024453097.1:c.36383C>A	XP_024308865.1:p.Pro12128His
XM_024453098.1:c.36302C>A	XP_024308866.1:p.Pro12101His
XM_024453099.1:c.18065C>A	XP_024308867.1:p.Pro6022His
XM_024453100.1:c.7919C>A	XP_024308868.1:p.Pro2640His