Canonical Allele Identifier: CA430113583

Gene: TTN

Linked Data

• gnomAD v4: 2-178630335-G-A
• MyVariant Identifiers: chr2:g.179495062G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630335G>A , CM000664.2:g.178630335G>A	GRCh38
NC_000002.11:g.179495062G>A , CM000664.1:g.179495062G>A	GRCh37
NC_000002.10:g.179203307G>A	NCBI36
NG_011618.3:g.205468C>T , LRG_391:g.205468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36483C>T	ENSP00000343764.6:p.His12161=
ENST00000342175.11:c.17568C>T	ENSP00000340554.6:p.His5856=
ENST00000359218.10:c.17367C>T	ENSP00000352154.5:p.His5789=
ENST00000342175.10:c.17568C>T	ENSP00000340554.6:p.His5856=
ENST00000342992.10:c.36483C>T	ENSP00000343764.6:p.His12161=
ENST00000359218.9:c.17367C>T	ENSP00000352154.5:p.His5789=
ENST00000460472.6:c.16992C>T	ENSP00000434586.1:p.His5664=
ENST00000589042.5:c.44187C>T MANE Select	ENSP00000467141.1:p.His14729=
ENST00000591111.5:c.39264C>T	ENSP00000465570.1:p.His13088=
ENST00000615779.4:c.39264C>T	ENSP00000483597.1:p.His13088=
NM_001256850.1:c.39264C>T	NP_001243779.1:p.His13088=
NM_001267550.2:c.44187C>T MANE Select	NP_001254479.2:p.His14729=
NM_003319.4:c.16992C>T	NP_003310.4:p.His5664=
NM_133378.4:c.36483C>T	NP_596869.4:p.His12161=
NM_133432.3:c.17367C>T	NP_597676.3:p.His5789=
NM_133437.4:c.17568C>T	NP_597681.4:p.His5856=
XM_011511729.1:c.43284C>T	XP_011510031.1:p.His14428=
XM_011511730.1:c.17178C>T	XP_011510032.1:p.His5726=
XM_011511731.1:c.17037C>T	XP_011510033.1:p.His5679=
XM_017004819.1:c.43080C>T	XP_016860308.1:p.His14360=
XM_017004820.1:c.38478C>T	XP_016860309.1:p.His12826=
XM_017004821.1:c.38475C>T	XP_016860310.1:p.His12825=
XM_017004822.1:c.35517C>T	XP_016860311.1:p.His11839=
XM_017004823.1:c.17133C>T	XP_016860312.1:p.His5711=
XM_024453094.1:c.38628C>T	XP_024308862.1:p.His12876=
XM_024453095.1:c.38625C>T	XP_024308863.1:p.His12875=
XM_024453096.1:c.38058C>T	XP_024308864.1:p.His12686=
XM_024453097.1:c.35400C>T	XP_024308865.1:p.His11800=
XM_024453098.1:c.35319C>T	XP_024308866.1:p.His11773=
XM_024453099.1:c.17082C>T	XP_024308867.1:p.His5694=
XM_024453100.1:c.6936C>T	XP_024308868.1:p.His2312=