Canonical Allele Identifier: CA349544159

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559750-G-C
• MyVariant Identifiers: chr2:g.179424477G>C (hg19) ; chr2:g.178559750G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559750G>C , CM000664.2:g.178559750G>C	GRCh38
NC_000002.11:g.179424477G>C , CM000664.1:g.179424477G>C	GRCh37
NC_000002.10:g.179132723G>C	NCBI36
NG_011618.3:g.276053C>G , LRG_391:g.276053C>G
NG_051363.1:g.41924G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78678C>G (TTN)	ENSP00000343764.6:p.Asp26226Glu
ENST00000342175.11:c.59763C>G (TTN)	ENSP00000340554.6:p.Asp19921Glu
ENST00000359218.10:c.59562C>G (TTN)	ENSP00000352154.5:p.Asp19854Glu
ENST00000342175.10:c.59763C>G (TTN)	ENSP00000340554.6:p.Asp19921Glu
ENST00000342992.10:c.78678C>G (TTN)	ENSP00000343764.6:p.Asp26226Glu
ENST00000359218.9:c.59562C>G (TTN)	ENSP00000352154.5:p.Asp19854Glu
ENST00000460472.6:c.59187C>G (TTN)	ENSP00000434586.1:p.Asp19729Glu
ENST00000589042.5:c.86382C>G (TTN) MANE Select	ENSP00000467141.1:p.Asp28794Glu
ENST00000591111.5:c.81459C>G (TTN)	ENSP00000465570.1:p.Asp27153Glu
ENST00000615779.4:c.81459C>G (TTN)	ENSP00000483597.1:p.Asp27153Glu
NM_001256850.1:c.81459C>G (TTN)	NP_001243779.1:p.Asp27153Glu
NM_001267550.2:c.86382C>G (TTN) MANE Select	NP_001254479.2:p.Asp28794Glu
NM_003319.4:c.59187C>G (TTN)	NP_003310.4:p.Asp19729Glu
NM_133378.4:c.78678C>G (TTN)	NP_596869.4:p.Asp26226Glu
NM_133432.3:c.59562C>G (TTN)	NP_597676.3:p.Asp19854Glu
NM_133437.4:c.59763C>G (TTN)	NP_597681.4:p.Asp19921Glu
NR_038271.1:n.447-11550G>C (TTN-AS1)
NR_038272.1:n.2043+17389G>C (TTN-AS1)
XM_011511729.1:c.85479C>G (TTN)	XP_011510031.1:p.Asp28493Glu
XM_011511730.1:c.59373C>G (TTN)	XP_011510032.1:p.Asp19791Glu
XM_011511731.1:c.59232C>G (TTN)	XP_011510033.1:p.Asp19744Glu
XM_017004819.1:c.85275C>G (TTN)	XP_016860308.1:p.Asp28425Glu
XM_017004820.1:c.80673C>G (TTN)	XP_016860309.1:p.Asp26891Glu
XM_017004821.1:c.80670C>G (TTN)	XP_016860310.1:p.Asp26890Glu
XM_017004822.1:c.77712C>G (TTN)	XP_016860311.1:p.Asp25904Glu
XM_017004823.1:c.59328C>G (TTN)	XP_016860312.1:p.Asp19776Glu
XM_024453094.1:c.80823C>G (TTN)	XP_024308862.1:p.Asp26941Glu
XM_024453095.1:c.80820C>G (TTN)	XP_024308863.1:p.Asp26940Glu
XM_024453096.1:c.80253C>G (TTN)	XP_024308864.1:p.Asp26751Glu
XM_024453097.1:c.77595C>G (TTN)	XP_024308865.1:p.Asp25865Glu
XM_024453098.1:c.77514C>G (TTN)	XP_024308866.1:p.Asp25838Glu
XM_024453099.1:c.59277C>G (TTN)	XP_024308867.1:p.Asp19759Glu
XM_024453100.1:c.49131C>G (TTN)	XP_024308868.1:p.Asp16377Glu