Canonical Allele Identifier: CA349435999

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1516770
• ClinVar RCV Id: RCV002026846
• dbSNP Id: rs2154179915
• MyVariant Identifiers: chr2:g.179449306C>G (hg19) ; chr2:g.178584579C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584579C>G , CM000664.2:g.178584579C>G	GRCh38
NC_000002.11:g.179449306C>G , CM000664.1:g.179449306C>G	GRCh37
NC_000002.10:g.179157552C>G	NCBI36
NG_011618.3:g.251224G>C , LRG_391:g.251224G>C
NG_051363.1:g.66753C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57269-1G>C (TTN)	ENSP00000343764.6:n.57269-1G>C
ENST00000342175.11:c.38354-1G>C (TTN)	ENSP00000340554.6:n.38354-1G>C
ENST00000359218.10:c.38153-1G>C (TTN)	ENSP00000352154.5:n.38153-1G>C
ENST00000342175.10:c.38354-1G>C (TTN)	ENSP00000340554.6:n.38354-1G>C
ENST00000342992.10:c.57269-1G>C (TTN)	ENSP00000343764.6:n.57269-1G>C
ENST00000359218.9:c.38153-1G>C (TTN)	ENSP00000352154.5:n.38153-1G>C
ENST00000460472.6:c.37778-1G>C (TTN)	ENSP00000434586.1:n.37778-1G>C
ENST00000589042.5:c.64973-1G>C (TTN) MANE Select	ENSP00000467141.1:n.64973-1G>C
ENST00000591111.5:c.60050-1G>C (TTN)	ENSP00000465570.1:n.60050-1G>C
ENST00000615779.4:c.60050-1G>C (TTN)	ENSP00000483597.1:n.60050-1G>C
NM_001256850.1:c.60050-1G>C (TTN)	NP_001243779.1:n.60050-1G>C
NM_001267550.2:c.64973-1G>C (TTN) MANE Select	NP_001254479.2:n.64973-1G>C
NM_003319.4:c.37778-1G>C (TTN)	NP_003310.4:n.37778-1G>C
NM_133378.4:c.57269-1G>C (TTN)	NP_596869.4:n.57269-1G>C
NM_133432.3:c.38153-1G>C (TTN)	NP_597676.3:n.38153-1G>C
NM_133437.4:c.38354-1G>C (TTN)	NP_597681.4:n.38354-1G>C
NR_038271.1:n.597-13017C>G (TTN-AS1)
NR_038272.1:n.2774C>G (TTN-AS1)
XM_011511729.1:c.64070-1G>C (TTN)	XP_011510031.1:n.64070-1G>C
XM_011511730.1:c.37964-1G>C (TTN)	XP_011510032.1:n.37964-1G>C
XM_011511731.1:c.37823-1G>C (TTN)	XP_011510033.1:n.37823-1G>C
XM_017004819.1:c.63866-1G>C (TTN)	XP_016860308.1:n.63866-1G>C
XM_017004820.1:c.59264-1G>C (TTN)	XP_016860309.1:n.59264-1G>C
XM_017004821.1:c.59261-1G>C (TTN)	XP_016860310.1:n.59261-1G>C
XM_017004822.1:c.56303-1G>C (TTN)	XP_016860311.1:n.56303-1G>C
XM_017004823.1:c.37919-1G>C (TTN)	XP_016860312.1:n.37919-1G>C
XM_024453094.1:c.59414-1G>C (TTN)	XP_024308862.1:n.59414-1G>C
XM_024453095.1:c.59411-1G>C (TTN)	XP_024308863.1:n.59411-1G>C
XM_024453096.1:c.58844-1G>C (TTN)	XP_024308864.1:n.58844-1G>C
XM_024453097.1:c.56186-1G>C (TTN)	XP_024308865.1:n.56186-1G>C
XM_024453098.1:c.56105-1G>C (TTN)	XP_024308866.1:n.56105-1G>C
XM_024453099.1:c.37868-1G>C (TTN)	XP_024308867.1:n.37868-1G>C
XM_024453100.1:c.27722-1G>C (TTN)	XP_024308868.1:n.27722-1G>C