Canonical Allele Identifier: CA349646347

Gene: TTN

Linked Data

• gnomAD v4: 2-178630928-A-G
• MyVariant Identifiers: chr2:g.179495655A>G (hg19) ; chr2:g.178630928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630928A>G , CM000664.2:g.178630928A>G	GRCh38
NC_000002.11:g.179495655A>G , CM000664.1:g.179495655A>G	GRCh37
NC_000002.10:g.179203900A>G	NCBI36
NG_011618.3:g.204875T>C , LRG_391:g.204875T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36326T>C	ENSP00000343764.6:p.Leu12109Pro
ENST00000342175.11:c.17411T>C	ENSP00000340554.6:p.Leu5804Pro
ENST00000359218.10:c.17210T>C	ENSP00000352154.5:p.Leu5737Pro
ENST00000342175.10:c.17411T>C	ENSP00000340554.6:p.Leu5804Pro
ENST00000342992.10:c.36326T>C	ENSP00000343764.6:p.Leu12109Pro
ENST00000359218.9:c.17210T>C	ENSP00000352154.5:p.Leu5737Pro
ENST00000460472.6:c.16835T>C	ENSP00000434586.1:p.Leu5612Pro
ENST00000589042.5:c.44030T>C MANE Select	ENSP00000467141.1:p.Leu14677Pro
ENST00000591111.5:c.39107T>C	ENSP00000465570.1:p.Leu13036Pro
ENST00000615779.4:c.39107T>C	ENSP00000483597.1:p.Leu13036Pro
NM_001256850.1:c.39107T>C	NP_001243779.1:p.Leu13036Pro
NM_001267550.2:c.44030T>C MANE Select	NP_001254479.2:p.Leu14677Pro
NM_003319.4:c.16835T>C	NP_003310.4:p.Leu5612Pro
NM_133378.4:c.36326T>C	NP_596869.4:p.Leu12109Pro
NM_133432.3:c.17210T>C	NP_597676.3:p.Leu5737Pro
NM_133437.4:c.17411T>C	NP_597681.4:p.Leu5804Pro
XM_011511729.1:c.43127T>C	XP_011510031.1:p.Leu14376Pro
XM_011511730.1:c.17021T>C	XP_011510032.1:p.Leu5674Pro
XM_011511731.1:c.16880T>C	XP_011510033.1:p.Leu5627Pro
XM_017004819.1:c.42923T>C	XP_016860308.1:p.Leu14308Pro
XM_017004820.1:c.38321T>C	XP_016860309.1:p.Leu12774Pro
XM_017004821.1:c.38318T>C	XP_016860310.1:p.Leu12773Pro
XM_017004822.1:c.35360T>C	XP_016860311.1:p.Leu11787Pro
XM_017004823.1:c.16976T>C	XP_016860312.1:p.Leu5659Pro
XM_024453094.1:c.38471T>C	XP_024308862.1:p.Leu12824Pro
XM_024453095.1:c.38468T>C	XP_024308863.1:p.Leu12823Pro
XM_024453096.1:c.37901T>C	XP_024308864.1:p.Leu12634Pro
XM_024453097.1:c.35243T>C	XP_024308865.1:p.Leu11748Pro
XM_024453098.1:c.35162T>C	XP_024308866.1:p.Leu11721Pro
XM_024453099.1:c.16925T>C	XP_024308867.1:p.Leu5642Pro
XM_024453100.1:c.6779T>C	XP_024308868.1:p.Leu2260Pro