Canonical Allele Identifier: CA349422844

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400520G>C (hg19) ; chr2:g.178535793G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178535793G>C , CM000664.2:g.178535793G>C	GRCh38
NC_000002.11:g.179400520G>C , CM000664.1:g.179400520G>C	GRCh37
NC_000002.10:g.179108766G>C	NCBI36
NG_011618.3:g.300010C>G , LRG_391:g.300010C>G
NG_051363.1:g.17967G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.93118C>G (TTN)	ENSP00000343764.6:p.Leu31040Val
ENST00000342175.11:c.74203C>G (TTN)	ENSP00000340554.6:p.Leu24735Val
ENST00000359218.10:c.74002C>G (TTN)	ENSP00000352154.5:p.Leu24668Val
ENST00000342175.10:c.74203C>G (TTN)	ENSP00000340554.6:p.Leu24735Val
ENST00000342992.10:c.93118C>G (TTN)	ENSP00000343764.6:p.Leu31040Val
ENST00000359218.9:c.74002C>G (TTN)	ENSP00000352154.5:p.Leu24668Val
ENST00000460472.6:c.73627C>G (TTN)	ENSP00000434586.1:p.Leu24543Val
ENST00000589042.5:c.100822C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu33608Val
ENST00000591111.5:c.95899C>G (TTN)	ENSP00000465570.1:p.Leu31967Val
ENST00000615779.4:c.95899C>G (TTN)	ENSP00000483597.1:p.Leu31967Val
NM_001256850.1:c.95899C>G (TTN)	NP_001243779.1:p.Leu31967Val
NM_001267550.2:c.100822C>G (TTN) MANE Select	NP_001254479.2:p.Leu33608Val
NM_003319.4:c.73627C>G (TTN)	NP_003310.4:p.Leu24543Val
NM_133378.4:c.93118C>G (TTN)	NP_596869.4:p.Leu31040Val
NM_133432.3:c.74002C>G (TTN)	NP_597676.3:p.Leu24668Val
NM_133437.4:c.74203C>G (TTN)	NP_597681.4:p.Leu24735Val
NR_038271.1:n.446+12157G>C (TTN-AS1)
NR_038272.1:n.281G>C (TTN-AS1)
XM_011511729.1:c.99919C>G (TTN)	XP_011510031.1:p.Leu33307Val
XM_011511730.1:c.73813C>G (TTN)	XP_011510032.1:p.Leu24605Val
XM_011511731.1:c.73672C>G (TTN)	XP_011510033.1:p.Leu24558Val
XM_017004819.1:c.99715C>G (TTN)	XP_016860308.1:p.Leu33239Val
XM_017004820.1:c.95113C>G (TTN)	XP_016860309.1:p.Leu31705Val
XM_017004821.1:c.95110C>G (TTN)	XP_016860310.1:p.Leu31704Val
XM_017004822.1:c.92152C>G (TTN)	XP_016860311.1:p.Leu30718Val
XM_017004823.1:c.73768C>G (TTN)	XP_016860312.1:p.Leu24590Val
XM_024453094.1:c.95263C>G (TTN)	XP_024308862.1:p.Leu31755Val
XM_024453095.1:c.95260C>G (TTN)	XP_024308863.1:p.Leu31754Val
XM_024453096.1:c.94693C>G (TTN)	XP_024308864.1:p.Leu31565Val
XM_024453097.1:c.92035C>G (TTN)	XP_024308865.1:p.Leu30679Val
XM_024453098.1:c.91954C>G (TTN)	XP_024308866.1:p.Leu30652Val
XM_024453099.1:c.73717C>G (TTN)	XP_024308867.1:p.Leu24573Val
XM_024453100.1:c.63571C>G (TTN)	XP_024308868.1:p.Leu21191Val