Canonical Allele Identifier: CA139578

Gene: TTN

Linked Data

• ClinVar Variation Id: 46939
• ClinVar RCV Id: RCV002054792 ; RCV000040209
• dbSNP Id: rs397517561
• gnomAD v4: 2-178637433-A-G
• MyVariant Identifiers: chr2:g.179502160A>G (hg19) ; chr2:g.178637433A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178637433A>G , CM000664.2:g.178637433A>G	GRCh38
NC_000002.11:g.179502160A>G , CM000664.1:g.179502160A>G	GRCh37
NC_000002.10:g.179210405A>G	NCBI36
NG_011618.3:g.198370T>C , LRG_391:g.198370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.33173-14T>C	ENSP00000343764.6:n.33173-14T>C
ENST00000342175.11:c.14258-14T>C	ENSP00000340554.6:n.14258-14T>C
ENST00000359218.10:c.14057-14T>C	ENSP00000352154.5:n.14057-14T>C
ENST00000342175.10:c.14258-14T>C	ENSP00000340554.6:n.14258-14T>C
ENST00000342992.10:c.33173-14T>C	ENSP00000343764.6:n.33173-14T>C
ENST00000359218.9:c.14057-14T>C	ENSP00000352154.5:n.14057-14T>C
ENST00000414766.5:c.2840-634T>C	ENSP00000401501.1:n.2840-634T>C
ENST00000460472.6:c.13682-14T>C	ENSP00000434586.1:n.13682-14T>C
ENST00000589042.5:c.40877-14T>C MANE Select	ENSP00000467141.1:n.40877-14T>C
ENST00000591111.5:c.35954-14T>C	ENSP00000465570.1:n.35954-14T>C
ENST00000615779.4:c.35954-14T>C	ENSP00000483597.1:n.35954-14T>C
NM_001256850.1:c.35954-14T>C	NP_001243779.1:n.35954-14T>C
NM_001267550.2:c.40877-14T>C MANE Select	NP_001254479.2:n.40877-14T>C
NM_003319.4:c.13682-14T>C	NP_003310.4:n.13682-14T>C
NM_133378.4:c.33173-14T>C	NP_596869.4:n.33173-14T>C
NM_133432.3:c.14057-14T>C	NP_597676.3:n.14057-14T>C
NM_133437.4:c.14258-14T>C	NP_597681.4:n.14258-14T>C
XM_011511729.1:c.39974-14T>C	XP_011510031.1:n.39974-14T>C
XM_011511730.1:c.13868-14T>C	XP_011510032.1:n.13868-14T>C
XM_011511731.1:c.13727-14T>C	XP_011510033.1:n.13727-14T>C
XM_017004819.1:c.39770-14T>C	XP_016860308.1:n.39770-14T>C
XM_017004820.1:c.35168-14T>C	XP_016860309.1:n.35168-14T>C
XM_017004821.1:c.35165-14T>C	XP_016860310.1:n.35165-14T>C
XM_017004822.1:c.32258-634T>C	XP_016860311.1:n.32258-634T>C
XM_017004823.1:c.13823-14T>C	XP_016860312.1:n.13823-14T>C
XM_024453094.1:c.35318-14T>C	XP_024308862.1:n.35318-14T>C
XM_024453095.1:c.35315-14T>C	XP_024308863.1:n.35315-14T>C
XM_024453096.1:c.34748-14T>C	XP_024308864.1:n.34748-14T>C
XM_024453097.1:c.32090-14T>C	XP_024308865.1:n.32090-14T>C
XM_024453098.1:c.32009-14T>C	XP_024308866.1:n.32009-14T>C
XM_024453099.1:c.13823-634T>C	XP_024308867.1:n.13823-634T>C
XM_024453100.1:c.3626-14T>C	XP_024308868.1:n.3626-14T>C