Canonical Allele Identifier: CA349434750

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178539949-G-C
• MyVariant Identifiers: chr2:g.179404676G>C (hg19) ; chr2:g.178539949G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539949G>C , CM000664.2:g.178539949G>C	GRCh38
NC_000002.11:g.179404676G>C , CM000664.1:g.179404676G>C	GRCh37
NC_000002.10:g.179112922G>C	NCBI36
NG_011618.3:g.295854C>G , LRG_391:g.295854C>G
NG_051363.1:g.22123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90412C>G (TTN)	ENSP00000343764.6:p.Leu30138Val
ENST00000342175.11:c.71497C>G (TTN)	ENSP00000340554.6:p.Leu23833Val
ENST00000359218.10:c.71296C>G (TTN)	ENSP00000352154.5:p.Leu23766Val
ENST00000342175.10:c.71497C>G (TTN)	ENSP00000340554.6:p.Leu23833Val
ENST00000342992.10:c.90412C>G (TTN)	ENSP00000343764.6:p.Leu30138Val
ENST00000359218.9:c.71296C>G (TTN)	ENSP00000352154.5:p.Leu23766Val
ENST00000460472.6:c.70921C>G (TTN)	ENSP00000434586.1:p.Leu23641Val
ENST00000589042.5:c.98116C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu32706Val
ENST00000591111.5:c.93193C>G (TTN)	ENSP00000465570.1:p.Leu31065Val
ENST00000615779.4:c.93193C>G (TTN)	ENSP00000483597.1:p.Leu31065Val
NM_001256850.1:c.93193C>G (TTN)	NP_001243779.1:p.Leu31065Val
NM_001267550.2:c.98116C>G (TTN) MANE Select	NP_001254479.2:p.Leu32706Val
NM_003319.4:c.70921C>G (TTN)	NP_003310.4:p.Leu23641Val
NM_133378.4:c.90412C>G (TTN)	NP_596869.4:p.Leu30138Val
NM_133432.3:c.71296C>G (TTN)	NP_597676.3:p.Leu23766Val
NM_133437.4:c.71497C>G (TTN)	NP_597681.4:p.Leu23833Val
NR_038271.1:n.446+16313G>C (TTN-AS1)
NR_038272.1:n.1840+59G>C (TTN-AS1)
XM_011511729.1:c.97213C>G (TTN)	XP_011510031.1:p.Leu32405Val
XM_011511730.1:c.71107C>G (TTN)	XP_011510032.1:p.Leu23703Val
XM_011511731.1:c.70966C>G (TTN)	XP_011510033.1:p.Leu23656Val
XM_017004819.1:c.97009C>G (TTN)	XP_016860308.1:p.Leu32337Val
XM_017004820.1:c.92407C>G (TTN)	XP_016860309.1:p.Leu30803Val
XM_017004821.1:c.92404C>G (TTN)	XP_016860310.1:p.Leu30802Val
XM_017004822.1:c.89446C>G (TTN)	XP_016860311.1:p.Leu29816Val
XM_017004823.1:c.71062C>G (TTN)	XP_016860312.1:p.Leu23688Val
XM_024453094.1:c.92557C>G (TTN)	XP_024308862.1:p.Leu30853Val
XM_024453095.1:c.92554C>G (TTN)	XP_024308863.1:p.Leu30852Val
XM_024453096.1:c.91987C>G (TTN)	XP_024308864.1:p.Leu30663Val
XM_024453097.1:c.89329C>G (TTN)	XP_024308865.1:p.Leu29777Val
XM_024453098.1:c.89248C>G (TTN)	XP_024308866.1:p.Leu29750Val
XM_024453099.1:c.71011C>G (TTN)	XP_024308867.1:p.Leu23671Val
XM_024453100.1:c.60865C>G (TTN)	XP_024308868.1:p.Leu20289Val