Canonical Allele Identifier: CA349488730

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456711G>C (hg19) ; chr2:g.178591984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591984G>C , CM000664.2:g.178591984G>C	GRCh38
NC_000002.11:g.179456711G>C , CM000664.1:g.179456711G>C	GRCh37
NC_000002.10:g.179164957G>C	NCBI36
NG_011618.3:g.243819C>G , LRG_391:g.243819C>G
NG_051363.1:g.74158G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52216C>G (TTN)	ENSP00000343764.6:p.Pro17406Ala
ENST00000342175.11:c.33301C>G (TTN)	ENSP00000340554.6:p.Pro11101Ala
ENST00000359218.10:c.33100C>G (TTN)	ENSP00000352154.5:p.Pro11034Ala
ENST00000342175.10:c.33301C>G (TTN)	ENSP00000340554.6:p.Pro11101Ala
ENST00000342992.10:c.52216C>G (TTN)	ENSP00000343764.6:p.Pro17406Ala
ENST00000359218.9:c.33100C>G (TTN)	ENSP00000352154.5:p.Pro11034Ala
ENST00000460472.6:c.32725C>G (TTN)	ENSP00000434586.1:p.Pro10909Ala
ENST00000589042.5:c.59920C>G (TTN) MANE Select	ENSP00000467141.1:p.Pro19974Ala
ENST00000591111.5:c.54997C>G (TTN)	ENSP00000465570.1:p.Pro18333Ala
ENST00000615779.4:c.54997C>G (TTN)	ENSP00000483597.1:p.Pro18333Ala
NM_001256850.1:c.54997C>G (TTN)	NP_001243779.1:p.Pro18333Ala
NM_001267550.2:c.59920C>G (TTN) MANE Select	NP_001254479.2:p.Pro19974Ala
NM_003319.4:c.32725C>G (TTN)	NP_003310.4:p.Pro10909Ala
NM_133378.4:c.52216C>G (TTN)	NP_596869.4:p.Pro17406Ala
NM_133432.3:c.33100C>G (TTN)	NP_597676.3:p.Pro11034Ala
NM_133437.4:c.33301C>G (TTN)	NP_597681.4:p.Pro11101Ala
NR_038271.1:n.597-5612G>C (TTN-AS1)
NR_038272.1:n.3364+670G>C (TTN-AS1)
XM_011511729.1:c.59017C>G (TTN)	XP_011510031.1:p.Pro19673Ala
XM_011511730.1:c.32911C>G (TTN)	XP_011510032.1:p.Pro10971Ala
XM_011511731.1:c.32770C>G (TTN)	XP_011510033.1:p.Pro10924Ala
XM_017004819.1:c.58813C>G (TTN)	XP_016860308.1:p.Pro19605Ala
XM_017004820.1:c.54211C>G (TTN)	XP_016860309.1:p.Pro18071Ala
XM_017004821.1:c.54208C>G (TTN)	XP_016860310.1:p.Pro18070Ala
XM_017004822.1:c.51250C>G (TTN)	XP_016860311.1:p.Pro17084Ala
XM_017004823.1:c.32866C>G (TTN)	XP_016860312.1:p.Pro10956Ala
XM_024453094.1:c.54361C>G (TTN)	XP_024308862.1:p.Pro18121Ala
XM_024453095.1:c.54358C>G (TTN)	XP_024308863.1:p.Pro18120Ala
XM_024453096.1:c.53791C>G (TTN)	XP_024308864.1:p.Pro17931Ala
XM_024453097.1:c.51133C>G (TTN)	XP_024308865.1:p.Pro17045Ala
XM_024453098.1:c.51052C>G (TTN)	XP_024308866.1:p.Pro17018Ala
XM_024453099.1:c.32815C>G (TTN)	XP_024308867.1:p.Pro10939Ala
XM_024453100.1:c.22669C>G (TTN)	XP_024308868.1:p.Pro7557Ala