Canonical Allele Identifier: CA349512602

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417388G>C (hg19) ; chr2:g.178552661G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552661G>C , CM000664.2:g.178552661G>C	GRCh38
NC_000002.11:g.179417388G>C , CM000664.1:g.179417388G>C	GRCh37
NC_000002.10:g.179125634G>C	NCBI36
NG_011618.3:g.283142C>G , LRG_391:g.283142C>G
NG_051363.1:g.34835G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82535C>G (TTN)	ENSP00000343764.6:p.Ala27512Gly
ENST00000342175.11:c.63620C>G (TTN)	ENSP00000340554.6:p.Ala21207Gly
ENST00000359218.10:c.63419C>G (TTN)	ENSP00000352154.5:p.Ala21140Gly
ENST00000342175.10:c.63620C>G (TTN)	ENSP00000340554.6:p.Ala21207Gly
ENST00000342992.10:c.82535C>G (TTN)	ENSP00000343764.6:p.Ala27512Gly
ENST00000359218.9:c.63419C>G (TTN)	ENSP00000352154.5:p.Ala21140Gly
ENST00000460472.6:c.63044C>G (TTN)	ENSP00000434586.1:p.Ala21015Gly
ENST00000589042.5:c.90239C>G (TTN) MANE Select	ENSP00000467141.1:p.Ala30080Gly
ENST00000591111.5:c.85316C>G (TTN)	ENSP00000465570.1:p.Ala28439Gly
ENST00000615779.4:c.85316C>G (TTN)	ENSP00000483597.1:p.Ala28439Gly
NM_001256850.1:c.85316C>G (TTN)	NP_001243779.1:p.Ala28439Gly
NM_001267550.2:c.90239C>G (TTN) MANE Select	NP_001254479.2:p.Ala30080Gly
NM_003319.4:c.63044C>G (TTN)	NP_003310.4:p.Ala21015Gly
NM_133378.4:c.82535C>G (TTN)	NP_596869.4:p.Ala27512Gly
NM_133432.3:c.63419C>G (TTN)	NP_597676.3:p.Ala21140Gly
NM_133437.4:c.63620C>G (TTN)	NP_597681.4:p.Ala21207Gly
NR_038271.1:n.447-18639G>C (TTN-AS1)
NR_038272.1:n.2043+10300G>C (TTN-AS1)
XM_011511729.1:c.89336C>G (TTN)	XP_011510031.1:p.Ala29779Gly
XM_011511730.1:c.63230C>G (TTN)	XP_011510032.1:p.Ala21077Gly
XM_011511731.1:c.63089C>G (TTN)	XP_011510033.1:p.Ala21030Gly
XM_017004819.1:c.89132C>G (TTN)	XP_016860308.1:p.Ala29711Gly
XM_017004820.1:c.84530C>G (TTN)	XP_016860309.1:p.Ala28177Gly
XM_017004821.1:c.84527C>G (TTN)	XP_016860310.1:p.Ala28176Gly
XM_017004822.1:c.81569C>G (TTN)	XP_016860311.1:p.Ala27190Gly
XM_017004823.1:c.63185C>G (TTN)	XP_016860312.1:p.Ala21062Gly
XM_024453094.1:c.84680C>G (TTN)	XP_024308862.1:p.Ala28227Gly
XM_024453095.1:c.84677C>G (TTN)	XP_024308863.1:p.Ala28226Gly
XM_024453096.1:c.84110C>G (TTN)	XP_024308864.1:p.Ala28037Gly
XM_024453097.1:c.81452C>G (TTN)	XP_024308865.1:p.Ala27151Gly
XM_024453098.1:c.81371C>G (TTN)	XP_024308866.1:p.Ala27124Gly
XM_024453099.1:c.63134C>G (TTN)	XP_024308867.1:p.Ala21045Gly
XM_024453100.1:c.52988C>G (TTN)	XP_024308868.1:p.Ala17663Gly