Canonical Allele Identifier: CA538091359

Gene: TTN

Linked Data

• dbSNP Id: rs1452869465
• gnomAD v2: 2-179494955-A-G
• gnomAD v4: 2-178630228-A-G
• MyVariant Identifiers: chr2:g.179494955A>G (hg19) ; chr2:g.178630228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630228A>G , CM000664.2:g.178630228A>G	GRCh38
NC_000002.11:g.179494955A>G , CM000664.1:g.179494955A>G	GRCh37
NC_000002.10:g.179203200A>G	NCBI36
NG_011618.3:g.205575T>C , LRG_391:g.205575T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36577+13T>C	ENSP00000343764.6:n.36577+13T>C
ENST00000342175.11:c.17662+13T>C	ENSP00000340554.6:n.17662+13T>C
ENST00000359218.10:c.17461+13T>C	ENSP00000352154.5:n.17461+13T>C
ENST00000342175.10:c.17662+13T>C	ENSP00000340554.6:n.17662+13T>C
ENST00000342992.10:c.36577+13T>C	ENSP00000343764.6:n.36577+13T>C
ENST00000359218.9:c.17461+13T>C	ENSP00000352154.5:n.17461+13T>C
ENST00000460472.6:c.17086+13T>C	ENSP00000434586.1:n.17086+13T>C
ENST00000589042.5:c.44281+13T>C MANE Select	ENSP00000467141.1:n.44281+13T>C
ENST00000591111.5:c.39358+13T>C	ENSP00000465570.1:n.39358+13T>C
ENST00000615779.4:c.39358+13T>C	ENSP00000483597.1:n.39358+13T>C
NM_001256850.1:c.39358+13T>C	NP_001243779.1:n.39358+13T>C
NM_001267550.2:c.44281+13T>C MANE Select	NP_001254479.2:n.44281+13T>C
NM_003319.4:c.17086+13T>C	NP_003310.4:n.17086+13T>C
NM_133378.4:c.36577+13T>C	NP_596869.4:n.36577+13T>C
NM_133432.3:c.17461+13T>C	NP_597676.3:n.17461+13T>C
NM_133437.4:c.17662+13T>C	NP_597681.4:n.17662+13T>C
XM_011511729.1:c.43378+13T>C	XP_011510031.1:n.43378+13T>C
XM_011511730.1:c.17272+13T>C	XP_011510032.1:n.17272+13T>C
XM_011511731.1:c.17131+13T>C	XP_011510033.1:n.17131+13T>C
XM_017004819.1:c.43174+13T>C	XP_016860308.1:n.43174+13T>C
XM_017004820.1:c.38572+13T>C	XP_016860309.1:n.38572+13T>C
XM_017004821.1:c.38569+13T>C	XP_016860310.1:n.38569+13T>C
XM_017004822.1:c.35611+13T>C	XP_016860311.1:n.35611+13T>C
XM_017004823.1:c.17227+13T>C	XP_016860312.1:n.17227+13T>C
XM_024453094.1:c.38722+13T>C	XP_024308862.1:n.38722+13T>C
XM_024453095.1:c.38719+13T>C	XP_024308863.1:n.38719+13T>C
XM_024453096.1:c.38152+13T>C	XP_024308864.1:n.38152+13T>C
XM_024453097.1:c.35494+13T>C	XP_024308865.1:n.35494+13T>C
XM_024453098.1:c.35413+13T>C	XP_024308866.1:n.35413+13T>C
XM_024453099.1:c.17176+13T>C	XP_024308867.1:n.17176+13T>C
XM_024453100.1:c.7030+13T>C	XP_024308868.1:n.7030+13T>C