Canonical Allele Identifier: CA349646342

Gene: TTN

Linked Data

• gnomAD v4: 2-178630926-C-G
• MyVariant Identifiers: chr2:g.179495653C>G (hg19) ; chr2:g.178630926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630926C>G , CM000664.2:g.178630926C>G	GRCh38
NC_000002.11:g.179495653C>G , CM000664.1:g.179495653C>G	GRCh37
NC_000002.10:g.179203898C>G	NCBI36
NG_011618.3:g.204877G>C , LRG_391:g.204877G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36328G>C	ENSP00000343764.6:p.Val12110Leu
ENST00000342175.11:c.17413G>C	ENSP00000340554.6:p.Val5805Leu
ENST00000359218.10:c.17212G>C	ENSP00000352154.5:p.Val5738Leu
ENST00000342175.10:c.17413G>C	ENSP00000340554.6:p.Val5805Leu
ENST00000342992.10:c.36328G>C	ENSP00000343764.6:p.Val12110Leu
ENST00000359218.9:c.17212G>C	ENSP00000352154.5:p.Val5738Leu
ENST00000460472.6:c.16837G>C	ENSP00000434586.1:p.Val5613Leu
ENST00000589042.5:c.44032G>C MANE Select	ENSP00000467141.1:p.Val14678Leu
ENST00000591111.5:c.39109G>C	ENSP00000465570.1:p.Val13037Leu
ENST00000615779.4:c.39109G>C	ENSP00000483597.1:p.Val13037Leu
NM_001256850.1:c.39109G>C	NP_001243779.1:p.Val13037Leu
NM_001267550.2:c.44032G>C MANE Select	NP_001254479.2:p.Val14678Leu
NM_003319.4:c.16837G>C	NP_003310.4:p.Val5613Leu
NM_133378.4:c.36328G>C	NP_596869.4:p.Val12110Leu
NM_133432.3:c.17212G>C	NP_597676.3:p.Val5738Leu
NM_133437.4:c.17413G>C	NP_597681.4:p.Val5805Leu
XM_011511729.1:c.43129G>C	XP_011510031.1:p.Val14377Leu
XM_011511730.1:c.17023G>C	XP_011510032.1:p.Val5675Leu
XM_011511731.1:c.16882G>C	XP_011510033.1:p.Val5628Leu
XM_017004819.1:c.42925G>C	XP_016860308.1:p.Val14309Leu
XM_017004820.1:c.38323G>C	XP_016860309.1:p.Val12775Leu
XM_017004821.1:c.38320G>C	XP_016860310.1:p.Val12774Leu
XM_017004822.1:c.35362G>C	XP_016860311.1:p.Val11788Leu
XM_017004823.1:c.16978G>C	XP_016860312.1:p.Val5660Leu
XM_024453094.1:c.38473G>C	XP_024308862.1:p.Val12825Leu
XM_024453095.1:c.38470G>C	XP_024308863.1:p.Val12824Leu
XM_024453096.1:c.37903G>C	XP_024308864.1:p.Val12635Leu
XM_024453097.1:c.35245G>C	XP_024308865.1:p.Val11749Leu
XM_024453098.1:c.35164G>C	XP_024308866.1:p.Val11722Leu
XM_024453099.1:c.16927G>C	XP_024308867.1:p.Val5643Leu
XM_024453100.1:c.6781G>C	XP_024308868.1:p.Val2261Leu