Canonical Allele Identifier: CA138828

Gene: TTN

Linked Data

• ClinVar Variation Id: 46640
• ClinVar RCV Id: RCV000039910 ; RCV000464902
• dbSNP Id: rs191692293
• ExAC: 2:179594224 C / G
• gnomAD v2: 2-179594224-C-G
• gnomAD v3: 2-178729497-C-G
• gnomAD v4: 2-178729497-C-G
• MyVariant Identifiers: chr2:g.179594224C>G (hg19) ; chr2:g.178729497C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178729497C>G , CM000664.2:g.178729497C>G	GRCh38
NC_000002.11:g.179594224C>G , CM000664.1:g.179594224C>G	GRCh37
NC_000002.10:g.179302469C>G	NCBI36
NG_011618.3:g.106306G>C , LRG_391:g.106306G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.14927G>C	ENSP00000343764.6:p.Cys4976Ser
ENST00000342175.11:c.13858+8585G>C	ENSP00000340554.6:n.13858+8585G>C
ENST00000359218.10:c.13657+8585G>C	ENSP00000352154.5:n.13657+8585G>C
ENST00000342175.10:c.13858+8585G>C	ENSP00000340554.6:n.13858+8585G>C
ENST00000342992.10:c.14927G>C	ENSP00000343764.6:p.Cys4976Ser
ENST00000359218.9:c.13657+8585G>C	ENSP00000352154.5:n.13657+8585G>C
ENST00000460472.6:c.13282+8585G>C	ENSP00000434586.1:n.13282+8585G>C
ENST00000589042.5:c.18659G>C MANE Select	ENSP00000467141.1:p.Cys6220Ser
ENST00000591111.5:c.17708G>C	ENSP00000465570.1:p.Cys5903Ser
ENST00000615779.4:c.17708G>C	ENSP00000483597.1:p.Cys5903Ser
NM_001256850.1:c.17708G>C	NP_001243779.1:p.Cys5903Ser
NM_001267550.2:c.18659G>C MANE Select	NP_001254479.2:p.Cys6220Ser
NM_003319.4:c.13282+8585G>C	NP_003310.4:n.13282+8585G>C
NM_133378.4:c.14927G>C	NP_596869.4:p.Cys4976Ser
NM_133432.3:c.13657+8585G>C	NP_597676.3:n.13657+8585G>C
NM_133437.4:c.13858+8585G>C	NP_597681.4:n.13858+8585G>C
XM_011511729.1:c.17756G>C	XP_011510031.1:p.Cys5919Ser
XM_011511730.1:c.13468+8585G>C	XP_011510032.1:n.13468+8585G>C
XM_011511731.1:c.13327+8585G>C	XP_011510033.1:n.13327+8585G>C
XM_017004819.1:c.17711G>C	XP_016860308.1:p.Cys5904Ser
XM_017004820.1:c.14930G>C	XP_016860309.1:p.Cys4977Ser
XM_017004821.1:c.14927G>C	XP_016860310.1:p.Cys4976Ser
XM_017004822.1:c.17711G>C	XP_016860311.1:p.Cys5904Ser
XM_017004823.1:c.13423+8585G>C	XP_016860312.1:n.13423+8585G>C
XM_024453094.1:c.17711G>C	XP_024308862.1:p.Cys5904Ser
XM_024453095.1:c.17711G>C	XP_024308863.1:p.Cys5904Ser
XM_024453096.1:c.17711G>C	XP_024308864.1:p.Cys5904Ser
XM_024453097.1:c.17711G>C	XP_024308865.1:p.Cys5904Ser
XM_024453098.1:c.17711G>C	XP_024308866.1:p.Cys5904Ser
XM_024453099.1:c.13423+8585G>C	XP_024308867.1:n.13423+8585G>C