Canonical Allele Identifier: CA60994624

Gene: TTN

Linked Data

• ClinVar Variation Id: 1121387
• ClinVar RCV Id: RCV001451662
• dbSNP Id: rs372609980
• gnomAD v4: 2-178621650-G-T
• MyVariant Identifiers: chr2:g.179486377G>T (hg19) ; chr2:g.178621650G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178621650G>T , CM000664.2:g.178621650G>T	GRCh38
NC_000002.11:g.179486377G>T , CM000664.1:g.179486377G>T	GRCh37
NC_000002.10:g.179194622G>T	NCBI36
NG_011618.3:g.214153C>A , LRG_391:g.214153C>A
NG_051363.1:g.103824G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.37470C>A	ENSP00000343764.6:p.Gly12490=
ENST00000342175.11:c.18555C>A	ENSP00000340554.6:p.Gly6185=
ENST00000359218.10:c.18354C>A	ENSP00000352154.5:p.Gly6118=
ENST00000342175.10:c.18555C>A	ENSP00000340554.6:p.Gly6185=
ENST00000342992.10:c.37470C>A	ENSP00000343764.6:p.Gly12490=
ENST00000359218.9:c.18354C>A	ENSP00000352154.5:p.Gly6118=
ENST00000460472.6:c.17979C>A	ENSP00000434586.1:p.Gly5993=
ENST00000589042.5:c.45174C>A MANE Select	ENSP00000467141.1:p.Gly15058=
ENST00000591111.5:c.40251C>A	ENSP00000465570.1:p.Gly13417=
ENST00000615779.4:c.40251C>A	ENSP00000483597.1:p.Gly13417=
NM_001256850.1:c.40251C>A	NP_001243779.1:p.Gly13417=
NM_001267550.2:c.45174C>A MANE Select	NP_001254479.2:p.Gly15058=
NM_003319.4:c.17979C>A	NP_003310.4:p.Gly5993=
NM_133378.4:c.37470C>A	NP_596869.4:p.Gly12490=
NM_133432.3:c.18354C>A	NP_597676.3:p.Gly6118=
NM_133437.4:c.18555C>A	NP_597681.4:p.Gly6185=
XM_011511729.1:c.44271C>A	XP_011510031.1:p.Gly14757=
XM_011511730.1:c.18165C>A	XP_011510032.1:p.Gly6055=
XM_011511731.1:c.18024C>A	XP_011510033.1:p.Gly6008=
XM_017004819.1:c.44067C>A	XP_016860308.1:p.Gly14689=
XM_017004820.1:c.39465C>A	XP_016860309.1:p.Gly13155=
XM_017004821.1:c.39462C>A	XP_016860310.1:p.Gly13154=
XM_017004822.1:c.36504C>A	XP_016860311.1:p.Gly12168=
XM_017004823.1:c.18120C>A	XP_016860312.1:p.Gly6040=
XM_024453094.1:c.39615C>A	XP_024308862.1:p.Gly13205=
XM_024453095.1:c.39612C>A	XP_024308863.1:p.Gly13204=
XM_024453096.1:c.39045C>A	XP_024308864.1:p.Gly13015=
XM_024453097.1:c.36387C>A	XP_024308865.1:p.Gly12129=
XM_024453098.1:c.36306C>A	XP_024308866.1:p.Gly12102=
XM_024453099.1:c.18069C>A	XP_024308867.1:p.Gly6023=
XM_024453100.1:c.7923C>A	XP_024308868.1:p.Gly2641=