Canonical Allele Identifier: CA349507086

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179458750T>C (hg19) ; chr2:g.178594023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178594023T>C , CM000664.2:g.178594023T>C	GRCh38
NC_000002.11:g.179458750T>C , CM000664.1:g.179458750T>C	GRCh37
NC_000002.10:g.179166996T>C	NCBI36
NG_011618.3:g.241780A>G , LRG_391:g.241780A>G
NG_051363.1:g.76197T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.50666A>G (TTN)	ENSP00000343764.6:p.Tyr16889Cys
ENST00000342175.11:c.31751A>G (TTN)	ENSP00000340554.6:p.Tyr10584Cys
ENST00000359218.10:c.31550A>G (TTN)	ENSP00000352154.5:p.Tyr10517Cys
ENST00000342175.10:c.31751A>G (TTN)	ENSP00000340554.6:p.Tyr10584Cys
ENST00000342992.10:c.50666A>G (TTN)	ENSP00000343764.6:p.Tyr16889Cys
ENST00000359218.9:c.31550A>G (TTN)	ENSP00000352154.5:p.Tyr10517Cys
ENST00000460472.6:c.31175A>G (TTN)	ENSP00000434586.1:p.Tyr10392Cys
ENST00000589042.5:c.58370A>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr19457Cys
ENST00000591111.5:c.53447A>G (TTN)	ENSP00000465570.1:p.Tyr17816Cys
ENST00000615779.4:c.53447A>G (TTN)	ENSP00000483597.1:p.Tyr17816Cys
NM_001256850.1:c.53447A>G (TTN)	NP_001243779.1:p.Tyr17816Cys
NM_001267550.2:c.58370A>G (TTN) MANE Select	NP_001254479.2:p.Tyr19457Cys
NM_003319.4:c.31175A>G (TTN)	NP_003310.4:p.Tyr10392Cys
NM_133378.4:c.50666A>G (TTN)	NP_596869.4:p.Tyr16889Cys
NM_133432.3:c.31550A>G (TTN)	NP_597676.3:p.Tyr10517Cys
NM_133437.4:c.31751A>G (TTN)	NP_597681.4:p.Tyr10584Cys
NR_038271.1:n.597-3573T>C (TTN-AS1)
NR_038272.1:n.3364+2709T>C (TTN-AS1)
XM_011511729.1:c.57467A>G (TTN)	XP_011510031.1:p.Tyr19156Cys
XM_011511730.1:c.31361A>G (TTN)	XP_011510032.1:p.Tyr10454Cys
XM_011511731.1:c.31220A>G (TTN)	XP_011510033.1:p.Tyr10407Cys
XM_017004819.1:c.57263A>G (TTN)	XP_016860308.1:p.Tyr19088Cys
XM_017004820.1:c.52661A>G (TTN)	XP_016860309.1:p.Tyr17554Cys
XM_017004821.1:c.52658A>G (TTN)	XP_016860310.1:p.Tyr17553Cys
XM_017004822.1:c.49700A>G (TTN)	XP_016860311.1:p.Tyr16567Cys
XM_017004823.1:c.31316A>G (TTN)	XP_016860312.1:p.Tyr10439Cys
XM_024453094.1:c.52811A>G (TTN)	XP_024308862.1:p.Tyr17604Cys
XM_024453095.1:c.52808A>G (TTN)	XP_024308863.1:p.Tyr17603Cys
XM_024453096.1:c.52241A>G (TTN)	XP_024308864.1:p.Tyr17414Cys
XM_024453097.1:c.49583A>G (TTN)	XP_024308865.1:p.Tyr16528Cys
XM_024453098.1:c.49502A>G (TTN)	XP_024308866.1:p.Tyr16501Cys
XM_024453099.1:c.31265A>G (TTN)	XP_024308867.1:p.Tyr10422Cys
XM_024453100.1:c.21119A>G (TTN)	XP_024308868.1:p.Tyr7040Cys