Canonical Allele Identifier: CA349422868

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400526G>C (hg19) ; chr2:g.178535799G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535799G>C , CM000664.2:g.178535799G>C	GRCh38
NC_000002.11:g.179400526G>C , CM000664.1:g.179400526G>C	GRCh37
NC_000002.10:g.179108772G>C	NCBI36
NG_011618.3:g.300004C>G , LRG_391:g.300004C>G
NG_051363.1:g.17973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.93112C>G (TTN)	ENSP00000343764.6:p.His31038Asp
ENST00000342175.11:c.74197C>G (TTN)	ENSP00000340554.6:p.His24733Asp
ENST00000359218.10:c.73996C>G (TTN)	ENSP00000352154.5:p.His24666Asp
ENST00000342175.10:c.74197C>G (TTN)	ENSP00000340554.6:p.His24733Asp
ENST00000342992.10:c.93112C>G (TTN)	ENSP00000343764.6:p.His31038Asp
ENST00000359218.9:c.73996C>G (TTN)	ENSP00000352154.5:p.His24666Asp
ENST00000460472.6:c.73621C>G (TTN)	ENSP00000434586.1:p.His24541Asp
ENST00000589042.5:c.100816C>G (TTN) MANE Select	ENSP00000467141.1:p.His33606Asp
ENST00000591111.5:c.95893C>G (TTN)	ENSP00000465570.1:p.His31965Asp
ENST00000615779.4:c.95893C>G (TTN)	ENSP00000483597.1:p.His31965Asp
NM_001256850.1:c.95893C>G (TTN)	NP_001243779.1:p.His31965Asp
NM_001267550.2:c.100816C>G (TTN) MANE Select	NP_001254479.2:p.His33606Asp
NM_003319.4:c.73621C>G (TTN)	NP_003310.4:p.His24541Asp
NM_133378.4:c.93112C>G (TTN)	NP_596869.4:p.His31038Asp
NM_133432.3:c.73996C>G (TTN)	NP_597676.3:p.His24666Asp
NM_133437.4:c.74197C>G (TTN)	NP_597681.4:p.His24733Asp
NR_038271.1:n.446+12163G>C (TTN-AS1)
NR_038272.1:n.287G>C (TTN-AS1)
XM_011511729.1:c.99913C>G (TTN)	XP_011510031.1:p.His33305Asp
XM_011511730.1:c.73807C>G (TTN)	XP_011510032.1:p.His24603Asp
XM_011511731.1:c.73666C>G (TTN)	XP_011510033.1:p.His24556Asp
XM_017004819.1:c.99709C>G (TTN)	XP_016860308.1:p.His33237Asp
XM_017004820.1:c.95107C>G (TTN)	XP_016860309.1:p.His31703Asp
XM_017004821.1:c.95104C>G (TTN)	XP_016860310.1:p.His31702Asp
XM_017004822.1:c.92146C>G (TTN)	XP_016860311.1:p.His30716Asp
XM_017004823.1:c.73762C>G (TTN)	XP_016860312.1:p.His24588Asp
XM_024453094.1:c.95257C>G (TTN)	XP_024308862.1:p.His31753Asp
XM_024453095.1:c.95254C>G (TTN)	XP_024308863.1:p.His31752Asp
XM_024453096.1:c.94687C>G (TTN)	XP_024308864.1:p.His31563Asp
XM_024453097.1:c.92029C>G (TTN)	XP_024308865.1:p.His30677Asp
XM_024453098.1:c.91948C>G (TTN)	XP_024308866.1:p.His30650Asp
XM_024453099.1:c.73711C>G (TTN)	XP_024308867.1:p.His24571Asp
XM_024453100.1:c.63565C>G (TTN)	XP_024308868.1:p.His21189Asp