Canonical Allele Identifier: CA61006038

Gene: TTN

Linked Data

• ClinVar Variation Id: 2186958
• ClinVar RCV Id: RCV002611236
• dbSNP Id: rs376264278
• MyVariant Identifiers: chr2:g.178635426G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178635426G>C , CM000664.2:g.178635426G>C	GRCh38
NC_000002.11:g.179500153G>C , CM000664.1:g.179500153G>C	GRCh37
NC_000002.10:g.179208398G>C	NCBI36
NG_011618.3:g.200377C>G , LRG_391:g.200377C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.34180+14C>G	ENSP00000343764.6:n.34180+14C>G
ENST00000342175.11:c.15265+14C>G	ENSP00000340554.6:n.15265+14C>G
ENST00000359218.10:c.15064+14C>G	ENSP00000352154.5:n.15064+14C>G
ENST00000342175.10:c.15265+14C>G	ENSP00000340554.6:n.15265+14C>G
ENST00000342992.10:c.34180+14C>G	ENSP00000343764.6:n.34180+14C>G
ENST00000359218.9:c.15064+14C>G	ENSP00000352154.5:n.15064+14C>G
ENST00000460472.6:c.14689+14C>G	ENSP00000434586.1:n.14689+14C>G
ENST00000589042.5:c.41884+14C>G MANE Select	ENSP00000467141.1:n.41884+14C>G
ENST00000591111.5:c.36961+14C>G	ENSP00000465570.1:n.36961+14C>G
ENST00000615779.4:c.36961+14C>G	ENSP00000483597.1:n.36961+14C>G
NM_001256850.1:c.36961+14C>G	NP_001243779.1:n.36961+14C>G
NM_001267550.2:c.41884+14C>G MANE Select	NP_001254479.2:n.41884+14C>G
NM_003319.4:c.14689+14C>G	NP_003310.4:n.14689+14C>G
NM_133378.4:c.34180+14C>G	NP_596869.4:n.34180+14C>G
NM_133432.3:c.15064+14C>G	NP_597676.3:n.15064+14C>G
NM_133437.4:c.15265+14C>G	NP_597681.4:n.15265+14C>G
XM_011511729.1:c.40981+14C>G	XP_011510031.1:n.40981+14C>G
XM_011511730.1:c.14875+14C>G	XP_011510032.1:n.14875+14C>G
XM_011511731.1:c.14734+14C>G	XP_011510033.1:n.14734+14C>G
XM_017004819.1:c.40777+14C>G	XP_016860308.1:n.40777+14C>G
XM_017004820.1:c.36175+14C>G	XP_016860309.1:n.36175+14C>G
XM_017004821.1:c.36172+14C>G	XP_016860310.1:n.36172+14C>G
XM_017004822.1:c.33214+14C>G	XP_016860311.1:n.33214+14C>G
XM_017004823.1:c.14830+14C>G	XP_016860312.1:n.14830+14C>G
XM_024453094.1:c.36325+14C>G	XP_024308862.1:n.36325+14C>G
XM_024453095.1:c.36322+14C>G	XP_024308863.1:n.36322+14C>G
XM_024453096.1:c.35755+14C>G	XP_024308864.1:n.35755+14C>G
XM_024453097.1:c.33097+14C>G	XP_024308865.1:n.33097+14C>G
XM_024453098.1:c.33016+14C>G	XP_024308866.1:n.33016+14C>G
XM_024453099.1:c.14779+14C>G	XP_024308867.1:n.14779+14C>G
XM_024453100.1:c.4633+14C>G	XP_024308868.1:n.4633+14C>G