Canonical Allele Identifier: CA349411939

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396995G>C (hg19) ; chr2:g.178532268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532268G>C , CM000664.2:g.178532268G>C	GRCh38
NC_000002.11:g.179396995G>C , CM000664.1:g.179396995G>C	GRCh37
NC_000002.10:g.179105241G>C	NCBI36
NG_011618.3:g.303535C>G , LRG_391:g.303535C>G
NG_051363.1:g.14442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96643C>G (TTN)	ENSP00000343764.6:p.Leu32215Val
ENST00000342175.11:c.77728C>G (TTN)	ENSP00000340554.6:p.Leu25910Val
ENST00000359218.10:c.77527C>G (TTN)	ENSP00000352154.5:p.Leu25843Val
ENST00000342175.10:c.77728C>G (TTN)	ENSP00000340554.6:p.Leu25910Val
ENST00000342992.10:c.96643C>G (TTN)	ENSP00000343764.6:p.Leu32215Val
ENST00000359218.9:c.77527C>G (TTN)	ENSP00000352154.5:p.Leu25843Val
ENST00000460472.6:c.77152C>G (TTN)	ENSP00000434586.1:p.Leu25718Val
ENST00000589042.5:c.104347C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu34783Val
ENST00000591111.5:c.99424C>G (TTN)	ENSP00000465570.1:p.Leu33142Val
ENST00000615779.4:c.99424C>G (TTN)	ENSP00000483597.1:p.Leu33142Val
NM_001256850.1:c.99424C>G (TTN)	NP_001243779.1:p.Leu33142Val
NM_001267550.2:c.104347C>G (TTN) MANE Select	NP_001254479.2:p.Leu34783Val
NM_003319.4:c.77152C>G (TTN)	NP_003310.4:p.Leu25718Val
NM_133378.4:c.96643C>G (TTN)	NP_596869.4:p.Leu32215Val
NM_133432.3:c.77527C>G (TTN)	NP_597676.3:p.Leu25843Val
NM_133437.4:c.77728C>G (TTN)	NP_597681.4:p.Leu25910Val
NR_038271.1:n.446+8632G>C (TTN-AS1)
NR_038272.1:n.220-3464G>C (TTN-AS1)
XM_011511729.1:c.103444C>G (TTN)	XP_011510031.1:p.Leu34482Val
XM_011511730.1:c.77338C>G (TTN)	XP_011510032.1:p.Leu25780Val
XM_011511731.1:c.77197C>G (TTN)	XP_011510033.1:p.Leu25733Val
XM_017004819.1:c.103240C>G (TTN)	XP_016860308.1:p.Leu34414Val
XM_017004820.1:c.98638C>G (TTN)	XP_016860309.1:p.Leu32880Val
XM_017004821.1:c.98635C>G (TTN)	XP_016860310.1:p.Leu32879Val
XM_017004822.1:c.95677C>G (TTN)	XP_016860311.1:p.Leu31893Val
XM_017004823.1:c.77293C>G (TTN)	XP_016860312.1:p.Leu25765Val
XM_024453094.1:c.98788C>G (TTN)	XP_024308862.1:p.Leu32930Val
XM_024453095.1:c.98785C>G (TTN)	XP_024308863.1:p.Leu32929Val
XM_024453096.1:c.98218C>G (TTN)	XP_024308864.1:p.Leu32740Val
XM_024453097.1:c.95560C>G (TTN)	XP_024308865.1:p.Leu31854Val
XM_024453098.1:c.95479C>G (TTN)	XP_024308866.1:p.Leu31827Val
XM_024453099.1:c.77242C>G (TTN)	XP_024308867.1:p.Leu25748Val
XM_024453100.1:c.67096C>G (TTN)	XP_024308868.1:p.Leu22366Val